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

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.

SUBMITTER: Morle L

PROVIDER: S-EPMC1287937 | biostudies-literature | 2000 Dec

REPOSITORIES: biostudies-literature

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

Morlé L L Bozon M M Zech J C JC Alloisio N N Raas-Rothschild A A Philippe C C Lambert J C JC Godet J J Plauchu H H Edery P P

American journal of human genetics 20001013 6

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 p ...[more]

PMID: 11035633

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