Details

Autor(en) / Beteiligte

• Wang, Jun
• Ma, Xu
• Gu, Feng
• Liu, Ning-pu
• Hao, Xiao-lin
• Wang, Kai-jie
• Wang, Ning-li
• Zhu, Si-quan

Titel

A missense mutation S228P in the CRYBB1 gene causes autosomal dominant congenital cataract

Ist Teil von

• Chinese medical journal, 2007-05, Vol.120 (9), p.820-824

Ort / Verlag

China: Beijing Tongren Eye Center, Capital Medical University, Beijing 100730, China%Department of Genetics, National Research Institute for Family Planning, Beijing 100081, China

Erscheinungsjahr

2007

Quelle

MEDLINE

Beschreibungen/Notizen

• Background Congenital cataract is a highly heterogeneous disorder at both the genetic and phenotypic levels. This study was conducted to identify disease locus for autosomal dominant congenital cataracts in a four generation Chinese family. Methods Family history and clinical data were recorded. All the members were genotyped with microsatellite markers which are close to the known genetic loci for autosomal congenital cataracts. Two-point Lod scores were obtained using the MLINK of the LINKAGE program package （vet 5.1）. Candidate genes were amplified by polymerase chain reaction （PCR） and direct cycle sequencing. Results The maximum Lod score of Zmax=2.11 was obtained with three microsatellite markers D22S258, D22S315, and D22S1163 at recombination fraction θ= 0. Haplotype analysis showed that the disease gene was localized to a 18.5 Mbp region on chromosome 22 flanked by markers D22S1174 and D22S270, spanning the β-crystallin gene cluster. A c.752T→C mutation in exon 6 of CRYBB1 gene, which resulted in a heterozygous S228P mutation in predicted protein, was found to cosegregate with cataract in the family. Conclusions This study identified a novel mutation in CRYBB1 gene in a Chinese family with autosomal dominant congenital cataract. These results provide strong evidence that CRYBB1 is a pathogenic gene for congenital cataract.