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

Am J Hum Genet. 2000 Dec;67(6):1592-7. doi: 10.1086/316894. Epub 2000 Oct 13.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Chromosome Mapping
  • Chromosomes, Human, Pair 15 / genetics*
  • Coloboma / complications
  • Coloboma / genetics*
  • Female
  • Genes, Dominant / genetics*
  • Genetic Linkage / genetics*
  • Haplotypes / genetics
  • Humans
  • Jews / genetics
  • Lod Score
  • Male
  • Microphthalmos / complications
  • Microphthalmos / genetics*
  • Microsatellite Repeats / genetics
  • Pedigree
  • Penetrance