A locus for primary ciliary dyskinesia maps to chromosome 19q.
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.
Meeks
M
M
Department of Paediatrics, Royal Free and University College Medical School, University College London, London WC1E 6JJ, UK.
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
D000328:Adult; D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19; D002924:Ciliary Body / Q000648:ultrastructure; D002925:Ciliary Motility Disorders / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree; D012852:Sinusitis / Q000209:etiology; D012857:Situs Inversus / Q000209:etiology