Document Detail

Okihiro syndrome is caused by SALL4 mutations.
MedLine Citation:
PMID:  12393809     Owner:  NLM     Status:  MEDLINE    
Okihiro syndrome refers to the association of forearm malformations with Duane syndrome of eye retraction. Based on the reported literature experience, clinical diagnosis of the syndrome can be elusive, owing to the variable presentation in families reported. Specifically, there is overlap of clinical features with other conditions, most notably Holt-Oram syndrome, a condition resulting from mutation of the TBX5 locus and Townes-Brocks syndrome, known to be caused by mutations in the SALL1 gene. Arising from our observation of several malformations in Okihiro syndrome patients which are also described in Townes-Brocks syndrome, we postulated that Okihiro syndrome might result from mutation of another member of the human SALL gene family. We have characterized the human SALL4 gene on chromosome 20q13.13-q13.2. Moreover, we have identified literature reports of forelimb malformations in patients with cytogenetically identifiable abnormalities of this region. We here present evidence in 5 of 8 affected families that mutation at this locus results in the Okihiro syndrome phenotype.
Jürgen Kohlhase; Marielle Heinrich; Lucia Schubert; Manuela Liebers; Andreas Kispert; Franco Laccone; Peter Turnpenny; Robin M Winter; William Reardon
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Human molecular genetics     Volume:  11     ISSN:  0964-6906     ISO Abbreviation:  Hum. Mol. Genet.     Publication Date:  2002 Nov 
Date Detail:
Created Date:  2002-10-23     Completed Date:  2003-04-16     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9208958     Medline TA:  Hum Mol Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  2979-87     Citation Subset:  IM    
Institut für Humangenetik, Universität Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany.
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MeSH Terms
Case-Control Studies
Chromosome Mapping
Chromosomes, Human, Pair 20 / genetics*
Duane Retraction Syndrome / genetics*
Eye Abnormalities / genetics
Hand Deformities, Congenital / genetics
Limb Deformities, Congenital / genetics
Mutation / genetics*
Transcription Factors / genetics*
Zinc Fingers / genetics*
Reg. No./Substance:
0/SALL4 protein, human; 0/Transcription Factors

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