A locus for primary ciliary dyskinesia maps to chromosome 19q
M Meeks, A Walne, S Spiden, H Simpson, H Mussaffi-Georgy, H D Hamam, E L Fehaid, M Cheehab, M Al-Dabbagh, S Polak-Charcon, H Blau, A O'Rawe, H M Mitchison, R M Gardiner, E Chung, M Meeks, A Walne, S Spiden, H Simpson, H Mussaffi-Georgy, H D Hamam, E L Fehaid, M Cheehab, M Al-Dabbagh, S Polak-Charcon, H Blau, A O'Rawe, H M Mitchison, R M Gardiner, E Chung
Abstract
Primary ciliary dyskinesia is an autosomal recessive condition characterised by chronic sinusitis, bronchiectasis, and subfertility. Situs inversus occurs in 50% of cases (Kartagener syndrome). It has an estimated incidence of 1 in 20 000 live births. The clinical phenotype is caused by defective ciliary function associated with a range of ultrastructural abnormalities including absent dynein arms, absent radial spokes, and disturbed ciliary orientation. The molecular genetic basis is unknown. A genome scan was performed in five Arabic families. Using GENEHUNTER, a maximal multipoint lod score (HLOD) of 4.4 was obtained on chromosome 19q13.3-qter at alpha (proportion of linked families) = 0.7. A 15 cM critical region is defined by recombinations at D19S572 and D19S218. These data provide significant evidence for a PCD locus on chromosome 19q and confirm locus heterogeneity.
References
- Science. 1976 Jul 23;193(4250):317-9
- Nat Genet. 1997 Nov;17(3):305-8
- Am J Hum Genet. 1981 Nov;33(6):852-64
- Eur J Respir Dis Suppl. 1983;127:157-61
- Annu Rev Cell Biol. 1989;5:119-51
- N Engl J Med. 1990 Dec 13;323(24):1681-4
- Biophys J. 1990 Oct;58(4):905-17
- Nature. 1991 Aug 15;352(6336):640-3
- Hum Genet. 1992 May;89(3):270-4
- Trends Genet. 1995 Oct;11(10):398-404
- Cell Motil Cytoskeleton. 1995;32(2):136-44
- Nature. 1996 Mar 14;380(6570):152-4
- Am J Hum Genet. 1996 Jun;58(6):1347-63
- J Med Genet. 1996 Jun;33(6):498-503
- Med Hypotheses. 1996 Jul;47(1):23-6
- J Clin Invest. 1998 Sep 15;102(6):1077-82
- Eur Respir J. 1998 Oct;12(4):982-8
- Cell. 1998 Dec 11;95(6):829-37
- Am J Hum Genet. 1999 Jan;64(1):313-8
- Int J Dev Biol. 1999 Jul;43(4):283-6
- Ann Hum Genet. 1960 May;24:137-40
- Proc Natl Acad Sci U S A. 1996 Dec 10;93(25):14771-5
- FEBS Lett. 1997 Jul 28;412(2):325-30
- Nature. 1997 Oct 30;389(6654):963-6
- Lancet. 1980 Sep 13;2(8194):564-5
Source: PubMed