A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigree release_fqwnccvitjaujhsrlmrkmgxa3a

by Zhensheng Gu, Baohu Ji, Chunling Wan, Guang He, Juan Zhang, Ming Zhang, Guoyin Feng, Lin He, Linghan Gao

Released as a article-journal .


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 (Zmax) 2.02 at D17S1800 (θmax=0.00). Haplotyping identified a 26-cM region flanked by D17S921 and D17S800 on 17p12-21.2, namely at the βA1/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.
In text/plain format

Archived Files and Locations

application/pdf  3.9 MB
web.archive.org (webarchive)
www.molvis.org (web)
Read Archived PDF
Preserved and Accessible
Type  article-journal
Stage   unknown
Work Entity
access all versions, variants, and formats of this works (eg, pre-prints)
Catalog Record
Revision: fb906830-baed-47c7-a43f-a5b4aac68298