A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15.
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.
Morlé
L
L
Centre de Génétique Moléculaire et Cellulaire, CNRS UMR 5534, Université Claude Bernard-Lyon I, 69622 Villeurbanne, France.
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
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