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

L. Morlé, M. Bozon, J. C. Zech, N. Alloisio, A. Raas-Rothschild, P. Edery, C. Philipoe, J. Godet, H. Plauchu, P. Edery

Research output: Contribution to journalArticlepeer-review


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 betweer loci D15S1002 and D15S1040.

Original languageEnglish
Pages (from-to)1592-1597
Number of pages6
JournalAmerican Journal of Human Genetics
Issue number6
StatePublished - 2000
Externally publishedYes


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