Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors

Heather B Radtke, Courtney D Sebold, Caroline Allison, Joy Larsen Haidle, Gretchen Schneider, Heather B Radtke, Courtney D Sebold, Caroline Allison, Joy Larsen Haidle, Gretchen Schneider

Abstract

The objective of this document is to provide recommendations for the genetic counseling of patients and families undergoing evaluation for neurofibromatosis type 1 (NF1) or who have received a diagnosis of NF1. These recommendations are the opinions of a multi-center working group of genetic counselors with expertise in the care of individuals with NF1. These recommendations are based on the committee's clinical experiences, a review of pertinent English language medical articles, and reports of expert committees. These recommendations are not intended to dictate an exclusive course of management, nor does the use of such recommendations guarantee a particular outcome. These recommendations do not displace a health care provider's professional judgment based on the clinical circumstances of an individual patient.

Figures

Figure 1
Figure 1
Sample Intake Form for an NF1 Clinic Visit

References

    1. Ablon J. ‘The elephant man’ as ‘self’ and ‘other’: The psychosocial costs of a misdiagnosis. Social Science & Medicine. 1995;40(11):1481–1489.
    1. Ainsworth P. J., Chakraborty P. K., Weksberg R. Example of somatic mosaicism in a series of de novo neurofibromatosis type 1 cases due to a maternally derived deletion. Human Mutation. 1997;9(5):452–457.
    1. Akbarnia B. A., Gabriel K. R., Beckman E., Chalk D. Prevalence of scoliosis in neurofibromatosis. Spine. 1992;17:S244–S248.
    1. Ali M. S., Hooper G. Congenital pseudarthrosis of the ulna due to neurofibromatosis. Journal of Bone and Joint Surgery. 1982;64:600–602.
    1. Allanson J. E., Hall J. G., Van Allen M. I. Noonan phenotype associated with neurofibromatosis. American Journal of Medical Genetics. 1985;21:457–462.
    1. Allanson J. E., Upadhyaya M., Watson G. H., Partington M., MacKenzie A., Lahey D., et al. Watson syndrome: Is it a subtype of type 1 neurofibromatosis? Journal of Medical Genetics. 1991;28:752–756.
    1. Alldred A. J. Congenital pseudarthrosis of the clavicle. Journal of Bone and Joint Surgery. 1963;45-B:312–319.
    1. Alper J. C., Holmes L. B. The incidence and significance of birthmarks in a cohort of 4,641 newborns. Pediatric Dermatology. 1983;1(1):58–68.
    1. Alwan S., Tredwell S. J., Friedman J. M. Is osseous dysplasia a primary feature of neurofibromatosis 1 (NF1)? Clinical Genetics. 2005;67:378–390.
    1. American Psychiatric Association . Diagnostic and statistical manual of mental disorders. 4. Arlington: American Psychiatric Association; 2000.
    1. Ansari A. H., Nagamani M. Pregnancy and neurofibromatosis (von Recklinghausen’s disease) Obstetrics & Gynecology. 1976;47(suppl):25S–29S.
    1. Aoki S., Barkovich A. J., Nishimura K., Kjos B. O., Machido T., Cogen P., et al. Neurofibromatosis types 1 & 2: Cranial MR findings. Radiology. 1989;172:527–534.
    1. Bandipalliam P. Syndrome of early onset colon cancers, hematologic malignancies & features of neurofibromatosis in HNPCC families with homozygous mismatch repair gene mutations. Familial Cancer. 2005;4(4):323–333.
    1. Barton B., North K. Social skills of children with neurofibromatosis type 1. Developmental Medicine & Child Neurology. 2004;46:553–563.
    1. Bawden H., Dooley J., Buckley D., Camfield P., Gordon K., Riding M., et al. MRI and nonverbal cognitive deficits in children with neurofibromatosis 1. Journal of Clinical and Experimental Neuropsychology. 1996;18(6):784–792.
    1. Belton S. R., Ferguson J. E., Catanzarite V. A. Neurofibromatosis and pregnancy: Report of a case complicated by intrauterine growth retardation and oligohydramnios. American Journal of Obstetrics and Gynecology. 1984;149(4):468–469.
    1. Bennett R. L., Steinhaus K. A., Uhrich S. B., O’Sullivan C. K., Resta R. G., Lochner-Doyle D., et al. Recommendations for standardized human pedigree nomenclature. Journal of Genetic Counseling. 1995;4(4):267–279.
    1. Cambiaghi S., Restano L., Caputo R. Juvenile zanthogranuloma associated with neurofibromatosis 1: 14 patients without evidence of hematologic malignancies. Pediatric Dermatology. 2004;21(2):97–101.
    1. Carey J. F., Hall B. D., Allanson J. E., Witt D. Is there a “Neurofibromatosis-Noonan syndrome”? Proceedings of the Greenwood Genetic Center. 1995;14:82–83.
    1. Carey J. C., Laub J. M., Hall B. D. Penetrance and variability in neurofibromatosis: A genetic study of 60 families. Birth Defects Series. 1979;15:271–281.
    1. Carmi D., Shohat M., Metzker A., Dickerman Z. Growth, puberty, and endocrine functions in patients with sporadic or familial neurofibromatosis type 1: A longitudinal study. Pediatrics. 1999;103(6 Pt 1):1257–1262.
    1. Cawthon R. M., Andersen L. B., Buchberg A. M., Xu G. F., O’Connell P., Viskochil D., et al. cDNA sequence and genomic structure of EVI2B, a gene lying within an intron of the neurofibromatosis type 1 gene. Genomics. 1991;9:446–460.
    1. Cawthon R. M., O’Connell P., Buchberg A. M., Viskochil D., Weiss R. B., Culver M., et al. Identification and characterization of transcripts from the neurofibromatosis 1 region: The sequence and genomic structure of EVI2 and mapping of other transcripts. Genomics. 1990;7:555–565.
    1. Cawthon R., Weiss R., Xu G., Viskochil D., Culver M., Stevens J., et al. A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell. 1990;62:193–201.
    1. Chapman C. A., Waber D. P., Bassett N., Urion D. K., Korf B. R. Neurobehavioral profiles of children with neurofibromatosis 1 referred for learning disabilities are sex-specific. American Journal of Medical Genetics. 1996;67:127–132.
    1. Clementi M., Milani S., Mammi I., Boni S., Monciotti C., Tonconi R. Neurofibromatosis type 1 growth charts. American Journal of Medical Genetics. 1999;87(4):317–323.
    1. Cnossen M. H., Sam E. N., Cooiman L. C., Simonsz H. J., Stroink H. H., Oranje A. P., et al. Endocrinologic disorders and optic pathway gliomas in children with neurofibromatosis type 1. Pediatrics. 1997;100:667–670.
    1. Colman S. D., Rasmussen S. A., Ho V. T., Abernathy C. R., Wallace M. R. Somatic mosaicism in a patient with neurofibromatosis type 1. American Journal of Human Genetics. 1996;58(3):484–490.
    1. Crawford A. H., Schorry E. K. Neurofibromatosis in children: The role of the orthopedist. Journal of the American Academy of Orthopaedic Surgeons. 1999;7:217–230.
    1. Criado E., Izquierdo L., Lujan S., Puras E., del Mar Espino M. Abdominal aortic coarctation, renovascular, hypertension, and neurofibromatosis. Annals of Vascular Surgery. 2002;16(3):363–367.
    1. Crowe F. W., Schull W. J., Neel J. V. A clinical, pathological, and genetic study of multiple neurofibromatosis. Springfield, IL: Charles C. Thomas; 1956. pp. 1–181.
    1. Cutting L. E., Koth C. W., Denckla M. B. How children with neurofibromatosis type 1 differ from “typical” learning disabled clinic attenders: Nonverbal learning disabilities revisited. Developmental Neuropsychology. 2000;17(1):29–47.
    1. DeBella K., Szudek J., Friedman J. M. Use of National Institutes of Health criteria for diagnosis of neurofibromatosis 1 in children. Pediatrics. 2000;105(3):608–614.
    1. De Luca A., Bottillo I., Sarkozy A., Carta C., Neri C., Bellacchio, et al. NF1 gene mutations represent the major molecular event underlying Neurofibromatosis-Noonan syndrome. American Journal of Human Genetics. 2005;77(6):1092–1101.
    1. Denckla M. D., Hofman K., Massocco M., Melhem E., Reiss A. L., Bryan R. N., et al. Relationship between T2-weighted hyperintensities (unidentified bright objects) and lower IQs in children with neurofibromatosis-1. American Journal of Medical Genetics. 1996;67:98–102.
    1. Raedt T., Brems H., Wolkenstein P., Vidaud D., Pilotti S., Perrone F., et al. Elevated risk for MPNST in NF1 microdeletion patients. American Journal of Human Genetics. 2003;72(5):1288–1292.
    1. DeWinter A. E., Moore B. D., Slopis J. M., Ater J. L., Copeland D. R. Brain tumors in children with neurofibromatosis: Additional neuropsychological morbidity? Neuro-oncology. 1999;1(4):275–281.
    1. Dilts C. V., Carey J. C., Kircher J. C., Hoffman R. O., Creel D., Ward K., et al. Children and adolescents with neurofibromatosis 1: A behavioral phenotype. Journal of Developmental and Behavioral Pediatrics. 1996;17(4):229–239.
    1. Drouin V., Marret S., Petitcolas J., Eurin D., Vannier J. P., Fessard C., et al. Prenatal ultrasound abnormalities in a patient with generalized neurofibromatosis type 1. Neuropediatrics. 1997;28(2):120–121.
    1. Dugoff L., Sujansky E. Neurofibromatosis type I and pregnancy. American Journal of Medical Genetics. 1996;66:7–10.
    1. Edwards J. N., Fooks M., Davey D. A. Neurofibromatosis and severe hypertension in pregnancy. British Journal of Obstetrics and Gynaecology. 1983;90(6):528–531.
    1. Eliason M. J. Neurofibromatosis: Implications for learning and behaviour. Journal of Developmental and Behavioral Pediatrics. 1986;7:175–179.
    1. Evans D., Baser M. E., McGaughran J., Sharif S., Howard E., Moran A. Malignant peripheral nerve sheaths, tumors, and neurofibromatosis type 1. Journal of Medical Genetics. 2002;39:311–314.
    1. Ferner R. E., Hughes R. A., Wenman J. Intellectual impairment in neurofibromatosis 1. Journal of the Neurological Sciences. 1996;138:125–133.
    1. Finucane B. Working with women who have mental retardation: A genetic counselor’s guide. Elwyn, Pennsylvania: Elwyn, Inc; 1998.
    1. Floyd A., Percy-Lancaster R. The elephant woman. Neurofibromatosis associated with pseudarthrosis of the humerus. Journal of Bone and Joint Surgery, British Volume. 1987;69:121–123.
    1. Flueler U., Boltshauser E., Kilchhofer A. Iris hamartomata as a diagnostic criterion in neurofibromatosis. Neuropediatrics. 1986;17(4):183–185.
    1. Fois A., Calistri L., Balestri P., Vivarelli R., Bartalini G., Mancini L., et al. Relationship between café-au-lait spots as the only symptom and peripheral neurofibromatosis (NF1): A follow-up study. European Journal of Pediatrics. 1993;152:500–504.
    1. Friedman J. M. Vascular and endocrine abnormalities. In: Friedman J. M., Gutmann D. H., MacCollin M., Riccardi V. M., editors. Neurofibromatosis: Phenotype, natural history, and pathogenesis. 3. Baltimore: The Johns Hopkins University Press; 1999. pp. 274–296.
    1. Friedman J. M. Epidemiology of neurofibromatosis type 1. American Journal of Medical Genetics. 1999;89(1):1–6.
    1. Friedman J. M., Birch P. H. Type 1 neurofibromatosis: A descriptive analysis of the disorder in 1,728 patients. American Journal of Medical Genetics. 1997;70:138–143.
    1. Friedman J. M., Riccardi V. M. Clinical and epidemiological features. In: Friedman J. M., Gutmann D. H., MacCollin M., Riccardi V. M., editors. Neurofibromatosis: Phenotype, natural history, and pathogenesis. 3. Baltimore: The Johns Hopkins University Press; 1999. pp. 29–86.
    1. Friedman J. M., Arbiser J., Epstein J. A., Gutmann D. H., Huot S. J., Lin A. E., et al. Cardiovascular disease in neurofibromatosis 1: Report of the NF1 cardiovascular task force. Genetics in Medicine. 2002;4(3):105–111.
    1. Gregg P. J., Price B. A., Ellis H. A., Stevens J. Pseudarthrosis of the radius associated with neurofibromatosis. Clinical Orthopaedics. 1982;171:175–179.
    1. Guran S., Safali M. A case of neurofibromatosis and breast cancer: Loss of heterozygosity of NF1 in breast cancer. Cancer Genetics and Cytogenetics. 2005;156(1):86–88.
    1. Gutmann D. Abnormalities of the nervous system. In: Friedman J. M., Gutmann D. H., MacCollin M., Riccardi V. M., editors. Neurofibromatosis: Phenotype, natural history, and pathogenesis. 3. Baltimore: The Johns Hopkins University Press; 1999. pp. 29–86.
    1. Gutmann D., Gurney J. Other malignancies. In: Friedman J. M., Gutmann D. H., MacCollin M., Riccardi V. M., editors. Neurofibromatosis: Phenotype, natural history, and pathogenesis. 3. Baltimore: The Johns Hopkins University Press; 1999. pp. 231–249.
    1. Habiby R., Silverman B., Listernick R., Charrow J. Precocious puberty in children with neurofibromatosis type 1. Journal of Pediatrics. 1995;126(3):346–347.
    1. Hoyme H. E., Musgrave S. D., Browne A. F., Clemmons J. J. Congenital oral tumor associated with neurofibromatosis detected by prenatal ultrasound. Clinical Pediatrics. 1987;26(7):372–374.
    1. Huson S. M. Neurofibromatosis type 1: Historical perspectives and introductory overview. In: Upadhyaya M., Cooper D. N., editors. Neurofibromatosis type I: From genotype to phenotype. Oxford: BIOS Scientific; 1998. pp. 1–20.
    1. Huson S., Jones D., Beck L. Ophthalmic manifestations of neurofibromatosis. British Journal of Ophthalmology. 1987;71:235–238.
    1. Huson S. M., Compston D. A., Clark P., Harper P. S. A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity. Journal of Medical Genetics. 1989;26:704–711.
    1. Hyman S. L., Shores A., North K. N. The nature and frequency of cognitive deficits in children with neurofibromatosis type 1. Neurology. 2005;65:1037–1044.
    1. Ilgren E. B., Kinnier-Wilson L. M., Stiller C. A. Gliomas in neurofibromatosis: A series of 89 cases with evidence for enhanced malignancy in associated cerebellar astrocytoma. Pathology Annual. 1985;20(part1):331–358.
    1. Jacks T., Shih T. S., Schmitt E. M., Bronson R. T., Bernards A., Weinberg R. A. Tumour predisposition in mice heterozygous for a targeting mutation in NF1. Nature Genetics. 1994;7(3):353–361.
    1. Johnson N. S., Saal H. M., Lovell A. M., Schorry E. K. Social and emotional problems in children with neurofibromatosis type 1: Evidence and proposed interventions. Journal of Pediatrics. 1999;134(6):767–772.
    1. Jones K. Smith’s recognizable patterns of human malformation. New York: Saunders; 2005.
    1. Kayes L. M., Burke W., Riccardi V. M., Bennett R., Ehrlich P., Rubenstein A., et al. Deletions spanning the neurofibromatosis 1 gene: Identification and phenotype of five patients. American Journal of Human Genetics. 1994;54(3):424–436.
    1. Kayl A. E., Moore B. D. Behavioral phenotype of neurofibromatosis, type 1. Mental Retardation and Developmental Disabilities Research Reviews. 2000;6(2):117–124.
    1. Keret D., Bollini G., Dungl P., Fixsen J., Grill F., Hefti F. The fibula in congenital pseudarthrosis of the tibia: The EPOS multicenter study. Journal of Pediatric Orthopedics Part B. 2000;9:3–10.
    1. Khosrotehrani K., Bastuji-Garin S., Riccardi V. M., Birch P., Friedman J. M., Wolkenstein P. Factors associated with mortality in neurofibromatosis, type 1. American Journal of Medical Genetics. 2005;132(1):49–53.
    1. Kim S. E., Heo E. P., Yoon T. J., Kim T. H. Segmentally distributed neurofibromatosis associated with adenocarcinoma of the colon. Journal of Dermatology. 2002;29:350–353.
    1. Kluwe L., Siebert R., Gesk S., Friedrich R. E., Tinschert S., Kehrer-Sawatzki H., et al. Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene. Human Mutation. 2004;23(2):111–116.
    1. Kluwe L., Tatagiba M., Funsterer C., Mautner V. F. NF1 mutations and clinical spectrum in patients with spinal neurofibromas. Journal of Medical Genetics. 2003;40:638–671.
    1. Korf B. R. Diagnostic outcome in children with multiple café-au-lait spots. Pediatrics. 1992;90(6):924–927.
    1. Korf B. R. Malignancy in neurofibromatosis type 1. Oncologist. 2000;5(6):477–485.
    1. Korf B. R., Henson J. W., Stemmer-Rachamimov R. Case 13-2005: A 48-year-old man with weakness of the limbs and multiple tumors of the spinal nerves. New England Journal of Medicine. 2005;352(17):1800–1808.
    1. Korf, B. R., & Rubenstein, A. E. (2005). Neurofibromatosis: A handbook for patients, families, and health care professionals (2nd ed.). New York: NY Thieme Medical Publishers.
    1. Kuorilehto T., Poyhonen M., Bloigu R., Heikkinen J., Vaananen K., Peltonen J. Decreased bone mineral density and content in neurofibromatosis type 1: Lowest local values are located in the load-carrying parts of the body. Osteoporosis International. 2005;16:928–936.
    1. Lazaro C., Gaona A., Lynch M., Kryuer H., Ravella A., Estivill X. Molecular characterization of the breakpoints of a 12-kb deletion in the NF1 gene in a family showing germ-line mosaicism. American Journal of Human Genetics. 1995;57:1044–1049.
    1. Leao M., da Silva M. L. Evidence of central nervous system involvement in Watson syndrome. Pediatric Neurology. 1995;12:252–254.
    1. Lehrnbecher T., Gassel A. M., Rauh V., Kirchner T., Huppertz H. I. Neurofibromatosis presenting as a severe systemic vasculopathy. European Journal of Pediatrics. 1994;153:107–109.
    1. Levy A. D., Patel N., Abbott R., Dow N., Miettinen M., Sobin L. H. Gastrointestinal stromal tumors in patients with neurofibromatosis: Imaging features with clinicopathologic correlation. American Journal of Roentgenology. 2004;183:1629–1636.
    1. Levy A. D., Patel N., Dow N., Abbott R. M., Miettinen M., Sobin L. H. From the archives of the AFIP: Abdominal neoplasms in patients with neurofibromatosis type 1: Radiologic–pathologic correlation. Radiographics. 2005;25(2):455–480.
    1. Lin A. E., Birch P. H., Korf B. R., Tenconi R., Niimura M., Poyhonen M., et al. Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1. American Journal of Medical Genetics. 2000;95:108–117.
    1. Listernick R., Charrow J., Greenwald M., Mets M. Natural history of optic pathway tumors in children with neurofibromatosis type 1: A longitudinal study. Journal of Pediatrics. 1994;125:63–66.
    1. Listernick R., Charrow J., Gutmann D. H. Intracranial gliomas in neurofibromatosis type 1. American Journal of Medical Genetics. 1999;89(1):38–44.
    1. Lubs M. L., Bauer M. S., Formas M. E., Djokic B. Lisch nodules in neurofibromatosis type 1. New England Journal of Medicine. 1991;324(18):1264–1266.
    1. Mazzocco M. M., Turner J. E., Denckla M. B., Hofman K. J., Scanlon D. C., Vellutino F. R. Language and reading deficits associated with neurofibromatosis type 1: Evidence for a not-so-nonverbal learning disability. Developmental Neuropsychology. 1995;11:503–522.
    1. McEwing R. L., Joelle R., Mohlo M., Bernard J. P., Hilton Y., Ville Y. Prenatal diagnosis of neurofibromatosis type 1: Sonographic and MRI findings. Prenatal Diagnosis. 2006;26:1110–1114.
    1. Mensink K. A., Ketterling R. P., Flynn H. C., Knudson R. A., Lindor N. M., Heese B. A., et al. Connective tissue dysplasia in five new patients with NF1 microdeletions: Further expansion of phenotype and review of the literature. Journal of Medical Genetics. 2006;43(2):e8.
    1. Messiaen L. M., Callens T., Mortier G., Beysen D., Vandenbroucke I., Van Roy N., et al. Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. Human Mutation. 2000;15(6):541–555.
    1. Messiaen L., Riccardi V., Peltonen J., Maertens O., Callens T., Karvonen S. L., et al. Independent NF1 mutations in two large families with spinal neurofibromatosis. Journal of Medical Genetics. 2003;40(2):122–126.
    1. Mikol D., Gulcher J., Stefannson K. The oligodendrocyte myelin glycoprotein belongs to a distinct family of proteins and contains the HNK-1 carbohydrate. Journal of Cell Molecular Biology. 1990;110:471–480.
    1. Morier P., Merot Y., Paccaud D., Beck D., Frenk E. Juvenile chronic granulocytic leukemia, juvenile xanthogranulomas, and neurofibromatosis. Case report and review of the literature. Journal of the American Academy of Dermatology. 1990;22:962–965.
    1. Niemeyer, C. M., Aricó, M., Basso, G., Biondi, A., Cantú Rajnoldi, A., Creutzig, U., et al. (1997). Chronic myelomonocytic leukemia in childhood: A retrospective analysis of 110 cases. Blood, 89, 3534–3543.
    1. NIH Consens Statement Online Neurofibromatosis. 1987;6(12):1–19.
    1. NIH Consensus Development Conference Neurofibromatosis: Conference statement. Archives of Neurology. 1988;45:752–756.
    1. North K. Neurofibromatosis type 1: Review of the first 200 patients in an Australian clinic. Journal of Child Neurology. 1993;8:395–402.
    1. North K. Cognitive function and academic performance. In: Friedman J. M., Gutmann D. H., MacCollin M., Riccardi V. M., editors. Neurofibromatosis: Phenotype, natural history, and pathogenesis. 3. Baltimore: The Johns Hopkins University Press; 1999. pp. 162–189.
    1. North K., Hyman S., Barton B. Cognitive deficits in neurofibromatosis 1. Journal of Child Neurology. 2002;17(8):605–612.
    1. North K., Joy P., Yuille D., Cocks N., Hutchins P. Cognitive function and academic performance in children with neurofibromatosis type 1. Developmental Medicine & Child Neurology. 1995;37:427–436.
    1. North K., Joy P., Yuille D., Cocks N., Hutchins P., McHugh K., et al. Learning difficulties in neurofibromatosis type 1: The significance of MRI abnormalities. Neurology. 1994;44:878–883.
    1. Oguzkan S., Cinbis M., Ayter S., Anlar B., Aysun S. Familial segmental neurofibromatosis. Journal of Child Neurology. 2004;19(5):392–394.
    1. Ozonoff S. Cognitive impairment in neurofibromatosis type 1. American Journal of Medical Genetics. 1999;89:45–52.
    1. Peltonen J., Jaakkola S., Lebwohl M., Renvall S., Risteli L., Virtanen I., et al. Cellular differentiation and expression of matrix genes in type 1 neurofibromatosis. Laboratory Investigation. 1988;59:760–771.
    1. Pilmore H. L., Na Nagara M. P., Walker R. J. Neurofibromatosis and renovascular hypertension presenting in early pregnancy. Nephrology Dialysis Transplantation. 1997;12:187–189.
    1. Poyhonen M., Kytola S., Leisti J. Epidemiology of neurofibromatosis type 1 (NF1) in northern Finland. Journal of Medical Genetics. 2000;37:632–636.
    1. Raevaara T. E., Gerdes A. M., Lonnqvist K. E., Tybjaerg-Hansen A., Abdel-Rahman W. A., Kariola R., et al. HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1. Genes Chromosomes Cancer. 2004;40(3):261–265.
    1. Rasmussen S. A., Coman S. D., Ho V. T., Abernathy C. R., Arn P. H., Weiss L., et al. Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1. Journal of Medical Genetics. 1998;35(6):468–471.
    1. Rasmussen S. A., Friedman J. M. NF1 gene and neurofibromatosis 1. American Journal of Epidemiology. 2000;151:20–33.
    1. Rasmussen S. A., Yang Q., Friedman J. M. Mortality in neurofibromatosis 1: An analysis using U.S. death certificates. American Journal of Human Genetics. 2001;68(5):1110–1118.
    1. Riccardi V. M. Neurofibromatosis: An overview and new directions in clinical investigations. Advances in Neurology. 1981;29:1–9.
    1. Riccardi V. M. Historical background and information. In: Friedman J. M., Gutmann D. H., MacCollin M., Riccardi V. M., editors. Neurofibromatosis: Phenotype, natural history, and pathogenesis. 3. Baltimore: The Johns Hopkins University Press; 1999. pp. 1–25.
    1. Riccardi V. M. Skeletal system. In: Friedman J. M., Gutmann D. H., MacCollin M., Riccardi V. M., editors. Neurofibromatosis: Phenotype, natural history, and pathogenesis. 3. Baltimore: The Johns Hopkins University Press; 1999. pp. 250–273.
    1. Rosser T. L., Vezina G., Packer R. J. Cerebrovascular abnormalities in a population of children with neurofibromatosis type 1. Neurology. 2005;64(3):553–555.
    1. Rouleau G. A., Wertelecki W., Haines J. L., Hobbs W. J., Trofatter J. A., Seizinger B. R., et al. Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22. Nature. 1987;329(6136):246–248.
    1. Ruggieri M., Pavone P., Polizzi A., Di Pietro M., Scuderi A., Gabriele A., et al. Ophthalmological manifestations in segmental neurofibromatosis type 1. British Journal of Ophthalmology. 2004;88(11):1429–1433.
    1. Samuelsson B., Axelsson R. Neurofibromatosis: A clinical and genetic study of 96 cases in Gothenburg, Sweden. Acta Dermato-Venereologica. 1981;95:67–71.
    1. Schneider, G., & Korf, B. R. (1996). Multiple café-au-lait spots that may not be diagnostic of neurofibromatosis. In J. Stevens (Ed.), Abstracts of papers and posters presented at the fifteenth annual education conference of the National Society of Genetic Counselors. Journal of Genetic Counseling, 5(4), 181–237.
    1. Schorry E. K., Stowens D. W., Crawford A. H., Stowens P. A., Schwartz W. R., Dignan P. S. Summary of patient data from a multidisciplinary neurofibromatosis clinic. Neurofibromatosis. 1989;2:129–134.
    1. Serleth H. J., Cogbill T. H., Gundersen S. B. Ruptured pancreaticoduodenal artery aneurysms and pheochromocytoma in a pregnant patient with neurofibromatosis. Surgery. 1998;124:100–102.
    1. Singhal S., Birch J. M., Kerr B., Lashford L., Evans D. G. Neurofibromatosis type 1 and sporadic optic gliomas. Archives of Disease in Childhood. 2002;87:65–70.
    1. Stephens K., Kayes L., Riccardi V. M., Rising M., Sybert V. P., Pagon R. A. Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes. Human Genetics. 1992;88(3):279–282.
    1. Stiller C. A., Chessells J. M., Fitchett M. Neurofibromatosis and childhood leukaemia/lymphoma: A population-based UKCCSG study. British Journal of Cancer. 1994;74(3):494.
    1. Stine S. B., Adams W. V. Learning problems in neurofibromatosis patients. Clinical Orthopaedics. 1989;245:43–48.
    1. Swapp G. H., Main R. A. Neurofibromatosis in pregnancy. British Journal of Dermatology. 1973;88(5):431–435.
    1. Szudek J., Birch P., Friedman J. M. Growth charts for young children with neurofibromatosis 1 (NF1) American Journal of Medical Genetics. 2000;92:224–228.
    1. Szudek J., Joe H., Friedman J. M. Analysis of intrafamilial phenotypic variation in neurofibromatosis 1 (NF1) Genetic Epidemiology. 2002;23(2):150–164.
    1. Tekin M., Bodurtha J. N., Riccardi V. M. Café-au-lait spots: The pediatricians perspectives. Pediatrics in Review. 2001;22(3):82–90.
    1. Tibbles J. A., Cohen M. M. The Proteus syndrome: The elephant man diagnosed. British Medical Journal. 1986;283:683–685.
    1. Tinschert S., Naumann I., Stegmann E., Buske A., Kaufmann D., Thiel G. Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene. European Journal of Human Genetics. 2000;8(6):455–459.
    1. Treves F. The elephant man and other reminiscences. London: Cassell; 1923.
    1. Trimbath J. D., Petersen G. M., Erdman S. H., Ferry M., Luce M. C., Giardiello F. M. Café-au-lait spots and early onset colorectal neoplasia: A variant of HNPCC. Familial Cancer. 2001;1:101–105.
    1. Upadhyaya M., Cooper D. N. The mutational spectrum in neurofibromatosis type 1 and its underlying mechanisms. In: Upadhyaya M., Cooper D. N., editors. Neurofibromatosis type 1: From genotype to phenotype. Oxford: BIOS Scientific; 1998. pp. 65–82.
    1. Upadhyaya M., Huson S. M., Davies M., Thomas N., Chuzhanova N., Giovannini S., et al. An absence of cutaneous Neurofibromas associated with a 3-bp inframe deletion in Exon 17 of the NF1 gene (c.2870–2972 del AAT): Evidence of a clinically significant NF1 genotype–phenotype correlation. American Journal of Human Genetics. 2007;80(1):140–151.
    1. Upadhyaya M., Ruggieri M., Maynard J., Osborn M., Hartog C., Mudd, et al. Gross deletions of the neurofibromatosis type 1 gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay. Human Genetics. 1998;102(5):591–597.
    1. Upadhyaya M., Shen M., Cherryson A., Farnham J., Maynard J., Huson S. M., et al. Analysis of mutations at the neurofibromatosis (NF1) locus. Human Molecular Genetics. 1992;1:735–740.
    1. US Preventative Services Task Force. Chairman Harold Sox, Jr. (1995) Guide to Clinical Preventive Services, 2nd ed. Appendix A. US Government Printing Office, Stock no. 017001005258.
    1. Varnhagen C. K., Lewin S., Das J. P., Bowen P., Ma K., Klimek M. Neurofibromatosis and psychological processes. Journal of Developmental and Behavioral Pediatrics. 1988;9:257–265.
    1. Vitale M. G., Guha A., Skaggs D. L. Orthopedic manifestations of neurofibromatosis in children. An update. Clinical Orthopaedics. 2002;401:107–118.
    1. Von Deimling A., Krone W., Menon A. G. Neurofibromatosis type 1: Pathology, clinical features and molecular genetics. Brain Pathology. 1995;5(2):153–162.
    1. Wadsby M., Lindenhammer H., Eeg-Olofsson O. Neurofibromatosis in childhood: Neuropsychological aspects. Neurofibromatosis. 1989;2:251–260.
    1. Walker L., Thompson D., Easton D., Ponder B., Ponder M., Frayling I., et al. A prospective study of neurofibromatosis type I cancer incidence in the UK. British Journal of Cancer. 2006;95:233–238.
    1. Wallace M. R., Marchuk D. A., Andsersen L. B., Letcher R., Odeh H. M., Saulino A. M., et al. Type 1 neurofibromatosis gene: Identification of a large transcript disrupted in three NF1 patients. Science. 1990;249(4965):181–186.
    1. Walther M. M., Herring J., Enquist E., Keiser H. R., Linehan W. M. von Recklinghausen’s disease and pheochromocytomas. Journal of Urology. 1999;162(5):1582–1586.
    1. Watson G. C. Pulmonic stenosis, café-au-lait spots, and dull intelligence. Archives of Disease in Childhood. 1967;42:303–307.
    1. Weil J. W. The structure of psychosocial genetic counseling. In: Weil J. W., editor. Psychosocial genetic counseling. New York: Oxford University Press; 2000. pp. 93–115.
    1. Weissman A., Jakobi P., Zaidise I., Drugan A. Neurofibromatosis and pregnancy: An update. Journal of Reproductive Medicine. 1993;38:890–896.
    1. Westenend P. H., Smedts F., de Jong M. C., Lommers E. J., Assmann K. J. A 4-year old boy with neurofibromatosis and severe renovascular hypertension due to renal arterial dysplasia. American Journal of Surgical Pathology. 1994;18:512–516.
    1. Wolkenstein P., Zeller J., Revuz J., Ecosse E., Leplege A. Quality-of-life impairment in neurofibromatosis type 1: A cross-sectional study of 128 cases. Archives of Dermatology. 2001;137(11):1421–1425.
    1. Wu B., Austin M. A., Schneider G. H., Boles R. G., Korf B. R. Deletion of the entire NF1 gene detected by FISH: Four deletion patients associated with severe manifestations. American Journal of Medical Genetics. 1995;59(4):528–535.
    1. Zhu Y., Parada L. F. Neurofibomin, a tumor suppressor in the nervous system. Experimental Cell Research. 2001;264:19–28.
    1. Zlotogora J. Germ line mosaicism. Human Genetics. 1998;102:381–386.
    1. Zoller M., Rembeck B., Akesson H. O., Angervall L. Life expectancy, mortality and prognostic factors in neurofibromatosis type 1: A twelve-year follow-up of an epidemiological study in Goteborg, Sweden. Acta Dermato-Venereologica. 1995;75:136–140.
    1. Zoller M. E., Rembeck B., Backman L. Neuropsychological deficits in adults with neurofibromatosis type 1. Acta Neurologica Scandinavica. 1997;95(4):225–232.
    1. Zvulunov A., Barak Y. M., Metzker A. Juvenile xanthogranuloma, neurofibromatosis, and juvenile chronic myelogenous leukemia. Archives of Dermatology. 1995;131(8):904–908.

Source: PubMed

3
S'abonner