Document Detail


A missense mutation in the gammaD-crystallin gene CRYGD associated with autosomal dominant congenital cataract in a Chinese family.
MedLine Citation:
PMID:  16446699     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
PURPOSE: To identify the genetic defect in autosomal dominant congenital cataracts in a six generation Chinese family. METHODS: Clinical and ophthalmological examinations were performed on the affected and unaffected family members. All the members were genotyped with microsatellite markers at loci which were considered to be associated with cataracts. A two-point LOD score was calculated using the Linkage package after genotyping. A mutation was detected by direct sequencing using gene specific primers. RESULTS: Clinical heterogeneity was observed within this family, three affected individuals showed nuclear cataract and others had coralliform cataracts. Significant evidence of linkage was obtained at markers D2S325 (LOD score [Z]=3.10, recombination fraction [theta]=0.0) and D2S1782 (Z=5.97, theta=0.0), respectively. Haplotype analysis indicated that the cataract gene was close to those two markers. Sequencing of the gammaD-crystallin gene (CRYGD) revealed a C>T transition in exon 2, that causes a conservative substitution of Arg to Cys at codon 14 (R14C). This mutation co-segregated with all affected individuals and was not observed in unaffected or 100 normal unrelated individuals. Bioinformatic analyses also showed that a highly conserved region was located at Arg14. CONCLUSIONS: This study is the first reported case with phenotype of coralliform/nuclear cataract that associated with the mutation of Arg14Cys (R14C) CRYGD.
Authors:
Feng Gu; Rong Li; Xi Xin Ma; Li Song Shi; Shang Zhi Huang; Xu Ma
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2006-01-10
Journal Detail:
Title:  Molecular vision     Volume:  12     ISSN:  1090-0535     ISO Abbreviation:  Mol. Vis.     Publication Date:  2006  
Date Detail:
Created Date:  2006-01-31     Completed Date:  2006-03-09     Revised Date:  2010-05-21    
Medline Journal Info:
Nlm Unique ID:  9605351     Medline TA:  Mol Vis     Country:  United States    
Other Details:
Languages:  eng     Pagination:  26-31     Citation Subset:  IM    
Affiliation:
Department of Genetics, National Research Institute for Family Planning, Beijing, China. gufengpumc@yahoo.com.cn
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Base Sequence
Cataract / complications,  congenital*,  genetics*,  pathology
Child, Preschool
Crystallins / genetics*
DNA Mutational Analysis
Female
Genes, Dominant*
Haplotypes
Humans
Linkage (Genetics)
Male
Middle Aged
Mutation, Missense*
Pedigree
Sequence Alignment
gamma-Crystallins
Chemical
Reg. No./Substance:
0/CRYGD protein, human; 0/Crystallins; 0/gamma-Crystallins

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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