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A locus for primary ciliary dyskinesia maps to chromosome 19q.

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.

SUBMITTER: Meeks M

PROVIDER: S-EPMC1734555 | biostudies-other | 2000 Apr

REPOSITORIES: biostudies-other

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A locus for primary ciliary dyskinesia maps to chromosome 19q.

Meeks M M Walne A A Spiden S S Simpson H H Mussaffi-Georgy H H Hamam H D HD Fehaid E L EL Cheehab M M Al-Dabbagh M M Polak-Charcon S S Blau H H O'Rawe A A Mitchison H M HM Gardiner R M RM Chung E E

Journal of medical genetics 20000401 4

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 ...[more]

PMID: 10745040

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