RGD Reference Report - Okihiro syndrome is caused by SALL4 mutations. - Rat Genome Database

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Okihiro syndrome is caused by SALL4 mutations.

Authors: Kohlhase, J  Heinrich, M  Schubert, L  Liebers, M  Kispert, A  Laccone, F  Turnpenny, P  Winter, RM  Reardon, W 
Citation: Kohlhase J, etal., Hum Mol Genet. 2002 Nov 1;11(23):2979-87.
RGD ID: 11556210
Pubmed: PMID:12393809   (View Abstract at PubMed)

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.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
SALL4HumanDuane retraction syndrome  IAGP DNA:snps more ...RGD 
Sall4RatDuane retraction syndrome  ISOSALL4 (Homo sapiens)DNA:snps more ...RGD 
Sall4MouseDuane retraction syndrome  ISOSALL4 (Homo sapiens)DNA:snps more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Sall4  (spalt-like transcription factor 4)

Genes (Mus musculus)
Sall4  (spalt like transcription factor 4)

Genes (Homo sapiens)
SALL4  (spalt like transcription factor 4)


Additional Information