RGD Reference Report - Novel RS1 mutations associated with X-linked juvenile retinoschisis. - Rat Genome Database

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Novel RS1 mutations associated with X-linked juvenile retinoschisis.

Authors: Yi, J  Li, S  Jia, X  Xiao, X  Wang, P  Guo, X  Zhang, Q 
Citation: Yi J, etal., Int J Mol Med. 2012 Apr;29(4):644-8. doi: 10.3892/ijmm.2012.882. Epub 2012 Jan 10.
RGD ID: 9587801
Pubmed: PMID:22245991   (View Abstract at PubMed)
PMCID: PMC3573736   (View Article at PubMed Central)
DOI: DOI:10.3892/ijmm.2012.882   (Journal Full-text)

To identify mutations in the retinoschisin (RS1) gene in families with X-linked retinoschisis (XLRS). Twenty families with XLRS were enrolled in this study. All six coding exons and adjacent intronic regions of RS1 were amplified by polymerase chain reaction (PCR). The nucleotide sequences of the amplicons were determined by Sanger sequencing. Ten hemizygous mutations in RS1 were detected in patients from 14 of the 20 families. Four of the ten mutations were novel, including c:176G>A (p:Cys59Tyr) in exon 3, c:531T>G (p:Tyr177X), c:607C>G (p:Pro203Ala) and c:668G>A (p:Cys223Tyr) in exon 6. These four novel mutations were not present in 176 normal individuals. The remaining six were recurrent mutations, including c:214G>A (p:Glu72Lys), c:304C>T (p:Arg102Trp), c:436G>A (p:Glu146Lys), c:544C>T (p:Arg182Cys), c:599G>A (p:Arg200His) and c:644A>T (p:Glu215Val). Our study expanded the mutation spectrum of RS1 and enriches our understanding of the molecular basis of XLRS.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
retinoschisis  IAGP 9587801DNA:missense mutations and nonsense mutation:multipleRGD 
retinoschisis  ISORS1 (Homo sapiens)9587801; 9587801DNA:missense mutations and nonsense mutation:multipleRGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Retinoschisis  IAGP 9587801DNA:missense mutations and nonsense mutation:multipleRGD 
X-linked inheritance  IAGP 9587801DNA:missense mutations and nonsense mutation:multipleRGD 
Objects Annotated

Genes (Rattus norvegicus)
Rs1  (retinoschisin 1)

Genes (Mus musculus)
Rs1  (retinoschisis (X-linked, juvenile) 1 (human))

Genes (Homo sapiens)
RS1  (retinoschisin 1)


Additional Information