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A family with X‐linked anophthalmia: Exclusion of SOX3 as a candidate gene
Author(s) -
Slavotinek Anne,
Lee Stephen S.,
Hamilton Steven P.
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30872
Subject(s) - anophthalmia , genetics , locus (genetics) , biology , genetic linkage , candidate gene , gene , microcephaly , phenotype , microphthalmia
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 . © 2005 Wiley‐Liss, Inc.