Fragile X syndrome: diagnostic and carrier testing

Stephanie Sherman, Beth A Pletcher, Deborah A Driscoll, Stephanie Sherman, Beth A Pletcher, Deborah A Driscoll

Abstract

This guideline is designed primarily as an educational resource for medical geneticists and other health care providers to help them provide quality medical genetic services. Adherence to this guideline does not necessarily assure a successful medical outcome. This guideline should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the geneticist should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. It may be prudent, however, to document in the patient's record the rationale for any significant deviation from this guideline.

References

    1. Warren ST, Sherman SL. The fragile X syndrome. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. Metabolic Basis of Inherited Disease. 8th ed. New York: McGraw-Hill; 2001. pp. 1257–1289.
    1. Hagerman RJ, Hagerman PJ, editors. Fragile X Syndrome: Diagnosis, Treatment, and Research. 3rd ed. Baltimore: Johns Hopkins University Press; 2002.
    1. Fu YH, Kuhl DP, Pizzuti A, Pieretti M, et al. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell. 1991;67:1047–1058.
    1. Verkerk AJ, Pieretti M, Sutcliffe JS, Fu YH, et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell. 1991;65:905–914.
    1. Ashley CTJ, Wilkinson KD, Reines D, Warren ST. FMR1 protein: conserved RNP family domains and selective RNA binding. Science. 1993;262:563–566.
    1. Crawford DC, Acuna JM, Sherman SL. FMR1 and the fragile X syndrome: human genome epidemiology review. Genet Med. 2001;3:359–371.
    1. Sullivan AK, Crawford DC, Scott EH, Leslie ML, Sherman SL. Paternally transmitted FMR1 alleles are less stable than maternally transmitted alleles in the common and intermediate size range. Am J Hum Genet. 2002;70:1532–1544.
    1. Crawford DC, Wilson B, Sherman SL. Factors involved in the initial mutation of the fragile X CGG repeat as determined by sperm small pool PCR. Hum Mol Genet. 2000;9:2909–2918.
    1. Nolin SL, Brown WT, Glicksman A, Houck GE, Jr, et al. Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet. 2003;72:454–464.
    1. Crawford DC, Meadows KL, Newman JL, Taft LF, et al. Prevalence of the fragile X syndrome in African Americans. Am J Med Genet. 2002;110:226–233.
    1. Crawford DC, Meadows KL, Newman JL, Taft LF, et al. Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population. Am J Hum Genet. 1999;64:495–507.
    1. Sherman SL. Premature ovarian failure in the fragile X syndrome. Am J Med Genet. 2000;97:189–194.
    1. Hagerman RJ, Leehey M, Heinrichs W, Tassone F, et al. Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology. 2001;57:127–130.
    1. Jacquemont S, Hagerman RJ, Leehey M, Grigsby J, et al. Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am J Hum Genet. 2003;72:869–878.
    1. Jacquemont S, Hagerman RJ, Leehey MA, Hall DA, et al. Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA. 2004;291:460–469.
    1. Rogers C, Partington MW, Turner GM. Tremor, ataxia and dementia in older men may indicate a carrier of the fragile X syndrome. Clin Genet. 2003;64:54–56.
    1. Smits A, van der Bruggen W, Sistermans E, Kiemeney B, Reneir W, Kremer B. Striking neurological symptoms in normal transmitting males of the fragile X syndrome. 8th International Fragile X Conference; July 2002; Conference Proceedings.
    1. Zeesman S, Zwaigenbaum L, Whelan DT, Hagerman RJ, Tassone F, Taylor SA. Paternal transmission of fragile X syndrome. Am J Med Genet. 2004;129A:184–189.
    1. Feng Y, Zhang F, Lokey LK, Chastain JL, et al. Translational suppression by trinucleotide repeat expansion at FMR1. Science. 1995;268:731–734.

Source: PubMed

Sponsors and Collaborators

Medical Conditions

Drug Interventions

3
Subscribe