title: Physical and transcript map of the autosomal dominant colobomatous microphthalmia locus on chromosome 15q12-q15 and refinement to a 4.4 Mb region.
abstract: Congenital microphthalmia is a developmental disorder characterized by shortened axial length of the eye. We have previously mapped the gene responsible for autosomal dominant colobomatous microphthalmia in a 5-generation family to chromosome 15q12-q15. Here, we set up a physical and transcript map of the 13.8 cM critical region, flanked by loci D15S1002 and D15S1040. Physical mapping and genetic linkage analysis using 20 novel polymorphic markers allowed the refinement of the disease locus to two intervals in close vicinity, namely a centromeric interval, bounded by microsatellite DNA markers m3-m17, and a telomeric interval, m76-m24, encompassing respectively 1.9 and 2.5 Mb. Moreover, we excluded three candidate genes, CKTSF1B1, KLF13 and CX36. Finally, although a phenomenon of anticipation was suggested by phenotypic and pedigree data, no abnormal expansion of three trinucleotide repeats mapping to the refine interval was found in affected individuals.
authors.affiliation: Centre de Génétique Moléculaire et Cellulaire, UMR CNRS 5534, Université Claude Bernard Lyon 1, Villeurbanne, France.
authors.forename: Laetitia
authors.initials: L
authors.lastname: Michon
authors.forename: Laurette
authors.initials: L
authors.lastname: Morlé
authors.forename: Muriel
authors.initials: M
authors.lastname: Bozon
authors.forename: Laurent
authors.initials: L
authors.lastname: Duret
authors.forename: Jean-Christophe
authors.initials: JC
authors.lastname: Zech
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Godet
authors.forename: Henry
authors.initials: H
authors.lastname: Plauchu
authors.forename: Patrick
authors.initials: P
authors.lastname: Edery
mesh_terms: D018797:Cell Cycle Proteins / Q000235:genetics; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D019295:Computational Biology / Q000379:methods; D017630:Connexins / Q000235:genetics; D020224:Expressed Sequence Tags; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D008040:Genetic Linkage; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics; D051741:Kruppel-Like Transcription Factors; D008297:Male; D008850:Microphthalmos / Q000235:genetics*; D010375:Pedigree; D020161:Physical Chromosome Mapping; D011110:Polymorphism, Genetic; D012097:Repressor Proteins / Q000235:genetics; D014158:Transcription, Genetic / Q000235:genetics; D018911:Trinucleotide Repeats / Q000235:genetics; D000097004:Gap Junction delta-2 Protein
chemical_list: D018797:Cell Cycle Proteins; D017630:Connexins; D036341:Intercellular Signaling Peptides and Proteins; D051741:Kruppel-Like Transcription Factors; D012097:Repressor Proteins; D000097004:Gap Junction delta-2 Protein; C486399:GREM1 protein, human; C486423:KLF13 protein, human