title: A family with X-linked anophthalmia: exclusion of SOX3 as a candidate gene.
abstract: We report on a four-generation family with X-linked anophthalmia in four affected males and show that this family has LOD scores consistent with linkage to Xq27, the third family reported to be linked to the ANOP1 locus. We sequenced the SOX3 gene at Xq27 as a candidate gene for the X-linked anophthalmia based on the high homology of this gene to SOX2, a gene previously mutated in bilateral anophthlamia. However, no amino acid sequence alterations were identified in SOX3. We have improved the definition of the phenotype in males with anophthalmia linked to the ANOP1 locus, as microcephaly, ocular colobomas, and severe renal malformations have not been described in families linked to ANOP1.
authors.affiliation: Department of Pediatrics, Division of Clinical Genetics, University of California, San Francisco, California 94143-0748, USA. slavotia@peds.ucsf.edu
authors.forename: Anne
authors.initials: A
authors.lastname: Slavotinek
authors.forename: Stephen S
authors.initials: SS
authors.lastname: Lee
authors.forename: Steven P
authors.initials: SP
authors.lastname: Hamilton
mesh_terms: D000328:Adult; D000853:Anophthalmos / Q000235:genetics* / Q000473:pathology; D041321:Chromosomes, Human, X / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics; D005192:Family Health; D005260:Female; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006239:Haplotypes; D006609:High Mobility Group Proteins / Q000235:genetics; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D010375:Pedigree; D055748:SOXB1 Transcription Factors; D014157:Transcription Factors / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins; D006609:High Mobility Group Proteins; C527785:SOX3 protein, human; D055748:SOXB1 Transcription Factors; D014157:Transcription Factors