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SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders

Lookup NU author(s): Dr Tara Montgomery


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Okihiro/Duane-radial ray syndrome (DRRS) is an autosomal dominant condition characterized by radial ray defects and Duane anomaly (a form of strabismus). Other abnormalities reported in this condition are anal, renal, cardiac, ear, and foot malformations, and hearing loss. The disease is the result of a mutation in the SALL4 gene, a human gene related to the developmental regulator spalt (sal) of Drosophila melanogaster. SALL4 mutations may also cause acro-renal-ocular syndrome (AROS), which differs from DRRS by the presence of structural eye anomalies, and phenotypes similar to thalidomide embryopathy and Holt-Oram syndrome (HOS). The SALL4 gene product is a zinc finger protein that is thought to act as a transcription factor. It contains three highly conserved C2H2 double zinc finger domains, which are evenly distributed. A single C2H2 motif is attached to the second domain, and at the amino terminus SALL4 contains a C2HC motif. Seventeen of the 22 SALL4 mutations known to date (five of which are presented here for the first time) are located in exon 2, and five are located in exon 3. These are nonsense mutations, short duplications, and short deletions. All of the mutations lead to preterminal stop codons and are thought to cause the phenotype via haploinsufficiency. This assumption is supported by the detection of six larger deletions involving the whole gene or single exons. This article summarizes the current knowledge about SALL4 defects and associated syndromes, and describes the clinical distinctions with similar phenotypes caused by other gene defects. © 2005 Wiley-Liss, Inc.

Publication metadata

Author(s): Kohlhase J, Chitayat D, Kotzot D, Ceylaner S, Froster UG, Fuchs S, Montgomery T, Rosler B

Publication type: Review

Publication status: Published

Journal: Human Mutation

Year: 2005

Volume: 26

Issue: 3

Pages: 176-183

Print publication date: 01/09/2005

ISSN (print): 1059-7794

ISSN (electronic): 1098-1004


DOI: 10.1002/humu.20215

PubMed id: 16086360


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