A locus for primary ciliary dyskinesia maps to chromosome 19q

J Med Genet. 2000 Apr;37(4):241-4. doi: 10.1136/jmg.37.4.241.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Chromosome Mapping
  • Chromosomes, Human, Pair 19*
  • Ciliary Body / ultrastructure
  • Ciliary Motility Disorders / genetics*
  • Ciliary Motility Disorders / physiopathology
  • Female
  • Humans
  • Male
  • Microsatellite Repeats
  • Pedigree
  • Sinusitis / etiology
  • Situs Inversus / etiology