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Identification of a GJA3 mutation in a Chinese family with congenital nuclear cataract using exome sequencing
Indian Journal of Biochemistry & Biophysics
Congenital cataract, a clinically and genetically heterogeneous lens disorder is defined as any opacity of the lens presented from birth and is responsible for approximately 10% of worldwide childhood poor vision or blindness. To identify the genetic defect responsible for congenital nuclear cataract in a four-generation Chinese Han family, exome and direct Sanger sequencings were conducted and a missense variant c.139G>A (p.D47N) in the gap junction protein-alpha 3 gene (GJA3) was identified.pmid:24772942 fatcat:vxtieq5ljnavddsptorrmdotcm