A nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese family

Content Provider	Semantic Scholar
Author	Jin, Chongfei Zhu, Ning Wang, Wei Wu, Renyi Jiang, Jin Shentu, Xingchao
Copyright Year	2008
Abstract	PURPOSE To identify the genetic defect associated with autosomal dominant congenital nuclear cataract in a Chinese family. METHODS Family history and phenotypic data were recorded, and the phenotypes were documented by slit lamp photography. The genomic DNA was extracted from peripheral blood leukocytes. All the exons and flanking intronic sequences of CRYGC and CRYGD were amplified by polymerase chain reaction (PCR) and screened for mutation by direct DNA sequencing. Structural models of the wild type and mutant gammaC-crystallin were generated and analyzed by SWISS-MODEL. RESULTS Sequencing of the coding regions of CRYGC and CRYGD showed the presence of a heterozygous C>A transversion at c.327 of the coding sequence in exon 3 of CRYGC (c.327C>A), which results in the substitution of a wild type cysteine to a nonsense codon (C109X). One and a half Greek key motifs at the COOH-terminus were found to be absent in the structural model of the mutant truncated gammaC-crystallin. CONCLUSIONS A novel nonsense mutation in CRYGC was detected in a Chinese family with consistent autosomal dominant congenital nuclear cataract, providing clear evidence of a relationship between the genotype and the corresponding cataract phenotype.
Starting Page	1272
Ending Page	1276
Page Count	5
File Format	PDF HTM / HTML
PubMed reference number	18618005
Journal	Medline
Volume Number	14
Alternate Webpage(s)	http://www.molvis.org/molvis/v14/a150/mv-v14-a150-yao.pdf
Alternate Webpage(s)	http://ftp.ncbi.nlm.nih.gov/pub/pmc/79/57/mv-v14-1272.PMC2447816.pdf
Journal	Molecular vision
Language	English
Access Restriction	Open
Content Type	Text
Resource Type	Article