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A family with X-linked anophthalmia: Exclusion of SOX3 as a candidate gene

✍ Scribed by Anne Slavotinek; Stephen S. Lee; Steven P. Hamilton

Publisher: John Wiley and Sons
Year: 2005
Tongue: English
Weight: 72 KB
Volume: 138A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.30872

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✦ Synopsis

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. © 2005 Wiley‐Liss, Inc.

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