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Mol Vis. 2003 Oct 24;9:579-83.

A novel mutation in GJA3 (connexin46) for autosomal dominant congenital nuclear pulverulent cataract.

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  • 1Health Science Center, Shanghai Institute for Biological Sciences, Chinese Academy of Science and Shanghai Second Medical University, Shanghai, People's Republic of China.



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.


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.


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.


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.

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