J Med Genet 2000;37:241-244 ( April )

A locus for primary ciliary dyskinesia maps to chromosome 19q

M Meeks^a, A Walne^a, S Spiden^a, H Simpson^b, H Mussaffi-Georgy^c, H D Hamam^b, E L Fehaid^b, M Cheehab^b, M Al-Dabbagh^b, S Polak-Charcon^d, H Blau^c, A O'Rawe^a, H M Mitchison^a, R M Gardiner^a, E Chung^a

^a Department of Paediatrics, Royal Free and University College Medical School, University College London, London WC1E 6JJ, UK, ^b Riyadh Al Kharj Hospital Programme, PO Box 7897, Riyadh 11159, Kingdom of Saudi Arabia, ^c Schneider Children's Medical Centre of Israel, 14 Kaplan Street, Petach Tikva 49202, Israel, ^d Pathology Institute, Sheba Medical Center, Israel

Correspondence to: Dr Chung, eddie.chung{at}ucl.ac.uk

Revised version received 16 November 1999; Accepted for publication 24 November 1999

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  (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.


Keywords: cilia; Kartagener syndrome; linkage; 19q

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© 2000 by J Med Genet
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