RGD Reference Report - Diversified clinical presentations associated with a novel sal-like 4 gene mutation in a Chinese pedigree with Duane retraction syndrome. - Rat Genome Database

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Diversified clinical presentations associated with a novel sal-like 4 gene mutation in a Chinese pedigree with Duane retraction syndrome.

Authors: Yang, MM  Ho, M  Lau, HH  Tam, PO  Young, AL  Pang, CP  Yip, WW  Chen, L 
Citation: Yang MM, etal., Mol Vis. 2013 May 6;19:986-94. Print 2013.
RGD ID: 11556211
Pubmed: PMID:23687435   (View Abstract at PubMed)
PMCID: PMC3654842   (View Article at PubMed Central)

PURPOSE: To determine the underlying genetic cause of Duane retraction syndrome (DRS) in a non-consanguineous Chinese Han family. METHODS: Detailed ophthalmic and physical examinations were performed on all members from a pedigree with DRS. All exons and their adjacent splicing junctions of the sal-like 4 (SALL4) gene were amplified with polymerase chain reaction and analyzed with direct sequencing in all the recruited family members and 200 unrelated control subjects. RESULTS: Clinical examination revealed a broad spectrum of phenotypes in the DRS family. Mutation analysis of SALL4 identified a novel heterozygous duplication mutation, c.1919dupT, which was completely cosegregated with the disease in the family and absent in controls. This mutation was predicted to cause a frameshift, introducing a premature stop codon, when translated, resulting in a truncated SALL4 protein, i.e., p.Met640IlefsX25. Bioinformatics analysis showed that the affected region of SALL4 shared a highly conserved sequence across different species. Diversified clinical manifestations were observed in the c.1919dupT carriers of the family. CONCLUSIONS: We identified a novel truncating mutation in the SALL4 gene that leads to diversified clinical features of DRS in a Chinese family. This mutation is predicted to result in a truncated SALL4 protein affecting two functional domains and cause disease development due to haploinsufficiency through nonsense-mediated mRNA decay.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
SALL4HumanDuane retraction syndrome  IAGP DNA:frameshift mutation:cds:p.M640IfsX25 (human)RGD 
Sall4RatDuane retraction syndrome  ISOSALL4 (Homo sapiens)DNA:frameshift mutation:cds:p.M640IfsX25 (human)RGD 
Sall4MouseDuane retraction syndrome  ISOSALL4 (Homo sapiens)DNA:frameshift mutation:cds:p.M640IfsX25 (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
SALL4HumanAbnormality of eye movement  IAGP DNA:frameshift mutation:cds:p.M640IfsX25RGD 
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