title: 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.
authors.affiliation: Centre de Génétique Moléculaire et Cellulaire, CNRS UMR 5534, Université Claude Bernard-Lyon I, 69622 Villeurbanne, France.
authors.forename: L
authors.initials: L
authors.lastname: Morlé
authors.forename: M
authors.initials: M
authors.lastname: Bozon
authors.forename: J C
authors.initials: JC
authors.lastname: Zech
authors.forename: N
authors.initials: N
authors.lastname: Alloisio
authors.forename: A
authors.initials: A
authors.lastname: Raas-Rothschild
authors.forename: C
authors.initials: C
authors.lastname: Philippe
authors.forename: J C
authors.initials: JC
authors.lastname: Lambert
authors.forename: J
authors.initials: J
authors.lastname: Godet
authors.forename: H
authors.initials: H
authors.lastname: Plauchu
authors.forename: P
authors.initials: P
authors.lastname: Edery
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D003103:Coloboma / Q000150:complications / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D008040:Genetic Linkage / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007585:Jews / Q000235:genetics; D008126:Lod Score; D008297:Male; D008850:Microphthalmos / Q000150:complications / Q000235:genetics*; D018895:Microsatellite Repeats / Q000235:genetics; D010375:Pedigree; D019683:Penetrance