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.

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