Document Detail

A novel mutation in GJA3 (connexin46) for autosomal dominant congenital nuclear pulverulent cataract.
MedLine Citation:
PMID:  14627959     Owner:  NLM     Status:  MEDLINE    
PURPOSE: Autosomal dominant congenital cataract (ADCC) is a clinically and genetically heterogeneous lens disorder that usually presents as a sight-threatening trait in childhood. Here, we described a six-generation Chinese family presenting with morphologically homogeneous "nuclear pulverulent" cataracts. METHODS: A whole genome scan was performed with polymorphic microsatellites in the Human MapPairs marker set, with special attention paid to known ADCC loci. Then we screened for mutations by direct sequencing. RESULTS: A significantly positive two-point LOD score was obtained at marker D13S175(Zmax=7.83, theta=0). Haplotype analysis indicated this disease was located at 13q11, close to GJA3. Upon screening for mutations in GJA3 in this family, we found a novel transition mutation (TTC->TTA) resulting in a Phenylalanine-Leucine substitution at the highly conserved codon 32 of the GJA3 protein. This mutation segregated with the affected members of the family. CONCLUSIONS: This finding is the first report of a mutation in the first transmembrane region of GJA3. Our study further confirmed that GJA3 plays a vital role in the maintenance of human lens transparency.
Haisong Jiang; Yiping Jin; Lei Bu; Weiying Zhang; Jing Liu; Bin Cui; Xiangyin Kong; Landian Hu
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2003-10-24
Journal Detail:
Title:  Molecular vision     Volume:  9     ISSN:  1090-0535     ISO Abbreviation:  Mol. Vis.     Publication Date:  2003 Oct 
Date Detail:
Created Date:  2003-11-20     Completed Date:  2003-12-15     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9605351     Medline TA:  Mol Vis     Country:  United States    
Other Details:
Languages:  eng     Pagination:  579-83     Citation Subset:  IM    
Health Science Center, Shanghai Institute for Biological Sciences, Chinese Academy of Science and Shanghai Second Medical University, Shanghai, People's Republic of China.
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MeSH Terms
Amino Acid Sequence
Base Sequence
Cataract / congenital*,  genetics*,  pathology
Chromosomes, Human, Pair 13 / genetics
Connexins / genetics*
DNA Mutational Analysis
Genes, Dominant
Genome, Human
Lens Nucleus, Crystalline / pathology*
Linkage (Genetics)
Microsatellite Repeats
Molecular Sequence Data
Mutation, Missense*
Reg. No./Substance:
0/Connexins; 0/connexin 46

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

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