A novel locus for Leber congenital amaurosis on chromosome 14q24

David W. Stockton, Richard Alan Lewis, Emad B. Abboud, Ali Al-Rajhi, Monzer Jabak, Kent L. Anderson, James R. Lupski

Research output: Contribution to journalArticlepeer-review

63 Scopus citations

Abstract

Leber congenital amaurosis (LCA) is a clinically and genetically heterogeneous autosomal recessive retinal dystrophy and the most common genetic cause of congenital visual impairment. We used a DNA pooling strategy comparing the genotypes of affected to unaffected control pools in a genome-wide search for identity-by-descent on a consanguineous Saudi Arabian LCA family. A shift to homozygosity was observed in the affected DNA pool compared with the control pool at linked markers D14S606 and D14S610. Genotyping of individual DNA samples from the entire pedigree for marker D14S74, closely linked to these loci, and several flanking markers confirmed linkage with a Z(MAX) = 13.29 at θ = 0.0. These data assign a third locus (LCA3) for LCA to chromosome 14q24. This locus and the previously identified loci are excluded for other Saudi Arabian pedigrees, both confirming that this clinical disorder is genetically heterogeneous and that additional LCA genes remain to be identified.

Original languageEnglish (US)
Pages (from-to)328-333
Number of pages6
JournalHuman Genetics
Volume103
Issue number3
DOIs
StatePublished - Oct 26 1998
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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