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Am J Hum Genet. 2000 Dec;67(6):1592-7. Epub 2000 Oct 13.

A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15.

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1
Centre de Génétique Moléculaire et Cellulaire, CNRS UMR 5534, Université Claude Bernard-Lyon I, 69622 Villeurbanne, France.

Abstract

Congenital microphthalmia is a common developmental ocular disorder characterized by shortened axial length. Isolated microphthalmia is clinically and genetically heterogeneous and may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. Here, we studied a five-generation family of Sephardic Jewish origin that included 38 members, of whom 7 have either unilateral or bilateral microphthalmia of variable severity inherited as an autosomal dominant trait with incomplete penetrance. After exclusion of several candidate loci, we performed a genome-scan study and demonstrated linkage to chromosome 15q12-q15. Positive LOD scores were obtained with a maximum at the D15S1007 locus (maximum LOD score 3.77, at recombination fraction 0.00). Haplotype analyses supported the location of the disease-causing gene in a 13.8-cM interval between loci D15S1002 and D15S1040.

PMID:
11035633
PMCID:
PMC1287937
DOI:
10.1086/316894
[Indexed for MEDLINE]
Free PMC Article
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