title: Colobomatous macrophthalmia with microcornea syndrome maps to the 2p23-p16 region.
abstract: Colobomatous macrophthalmia with microcornea syndrome (OMIM 602499) is a rare, autosomal dominant malformation characterized by microcornea, uveal coloboma, axial enlargement of the globe, and myopia. Using what is currently the largest described pedigree and candidate localization approach, we first excluded the candidate genes PAX2, PAX3, PAX6, and PAX9. Subsequently, the chromosome 14q24 region containing the CHX10, SIX1, and SIX4 genes were also excluded. Positive LOD scores were obtained with the DNA markers selected from the 2p23-p16 region. A maximum pairwise LOD score of 3.61 (Theta = 0) was noted with the DNA marker D2S1788. Haplotype analysis positioned the locus between DNA markers D2S2263 and D2S1352 within a 22 Mb physical interval. This region contains major candidate genes, such as SIX2, SIX3, and CYP1B1; however, mutation analysis did not identify a causative mutation in these genes. Macrophthalmia, colobomatous, with microcornea (MACOM) is proposed as the gene symbol for this malformation linked to 2p23-p16.
authors.affiliation: Genetic Disorders Unit, Department of Pediatrics, Marmara University Medical Faculty, Istanbul, Turkey.
authors.forename: Nursel H
authors.initials: NH
authors.lastname: Elcioglu
authors.forename: Burcu
authors.initials: B
authors.lastname: Akin
authors.forename: Ebru
authors.initials: E
authors.lastname: Toker
authors.forename: Mustafa
authors.initials: M
authors.lastname: Elcioglu
authors.forename: Ali
authors.initials: A
authors.lastname: Kaya
authors.forename: Timur
authors.initials: T
authors.lastname: Tuncali
authors.forename: Bernd
authors.initials: B
authors.lastname: Wollnik
authors.forename: Stella
authors.initials: S
authors.lastname: Hornby
authors.forename: Nurten A
authors.initials: NA
authors.lastname: Akarsu
mesh_terms: D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D003103:Coloboma / Q000235:genetics* / Q000473:pathology; D003316:Corneal Diseases / Q000235:genetics* / Q000473:pathology; D005799:Genes, Dominant; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008126:Lod Score; D010375:Pedigree; D014421:Turkey