RGD Reference Report - A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigree. - Rat Genome Database

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A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigree.

Authors: Gu, Z  Ji, B  Wan, C  He, G  Zhang, J  Zhang, M  Feng, G  He, L  Gao, L 
Citation: Gu Z, etal., Mol Vis. 2010 Feb 5;16:154-60.
RGD ID: 10059642
Pubmed: PMID:20142846   (View Abstract at PubMed)
PMCID: PMC2817011   (View Article at PubMed Central)

PURPOSE: To identify the mutant gene for autosomal dominant posterior polar congenital cataract in a four-generation Chinese pedigree. METHODS: The clinical data of patients from the family were recorded by slit-lamp photography. Genomic DNA samples from peripheral blood of the pedigree members were then isolated to map the relevant gene, using microsatellite markers for two-point linkage analysis. Genotype and haplotypes of the pedigree were constructed using Cyrillic software to locate the relevant region. Direct sequencing was performed to screen out the disease-causing mutation. RESULTS: The congenital cataract phenotype of the pedigree was labeled as the posterior polar type by using slit-lamp photography. Linkage analysis results indicated a maximum logarithm of odds LOD score of (Z(max)) 2.02 at D17S1800 (theta(max)=0.00). Haplotyping identified a 26-cM region flanked by D17S921 and D17S800 on 17p12-21.2, namely at the betaA1/A3-crystallin (CRYBA1/A3) gene locus. Sequencing revealed a splice site mutation, G-->A, at the first base of intron 3 of CRYBA1/A3, which co-segregated with the affected individuals in the pedigree but which was not found in the unaffected members of the family or in the 50 unrelated controls. CONCLUSIONS: Our results demonstrated that a splice site mutation of CRYBA1/A3 was responsible for the autosomal dominant posterior polar congenital cataract in a four-generation Chinese pedigree. The same mutation in this gene had previously been reported to be associated with other phenotype cataracts. This study is the first report relating a mutation of CRYBA1/A3 to posterior polar cataract.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
CRYBA1Humancataract  IAGP DNA:splice-site mutation:intron:IVS3+1G>A(human)RGD 
Cryba1Ratcataract  ISOCRYBA1 (Homo sapiens)DNA:splice-site mutation:intron:IVS3+1G>A(human)RGD 
Cryba1Mousecataract  ISOCRYBA1 (Homo sapiens)DNA:splice-site mutation:intron:IVS3+1G>A(human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Cryba1  (crystallin, beta A1)

Genes (Mus musculus)
Cryba1  (crystallin, beta A1)

Genes (Homo sapiens)
CRYBA1  (crystallin beta A1)


Additional Information