Mutation analysis of congenital cataract in a Chinese family identified a novel missense mutation in the connexin 46 gene (GJA3)

摘要: Purpose: To identify the genetic defects in a three-generation Chinese family with congenital nuclear cataract. Methods: Four patients and three healthy members from underwent complete physical ophthalmic examinations. Genomic DNA was extracted peripheral blood leukocytes of as well 100 normal controls. Polymerase chain reaction (PCR) amplification direct sequencing all coding exons candidate genes were performed. The functional consequences mutation analyzed biology softwares. Results: A novel (c.130G>A) identified connexin 46 gene (GJA3), which resulted substitution valine by methionine at highly conserved codon 44 46. This co-segregated among affected not observed either unaffected or Conclusions: is missense first extracellular loop 46; this expands spectrum GJA3 association Congenital cataract significant cause poor vision blindness children worldwide responsible for 10.7%–14.0% who are blind [1]. It clinically genetically heterogeneous lens disorder, autosomal dominant inheritance being most common. Currently, more than 22 have been to be associated various forms cataract, including ten crystalline (CRYAA [2], CRYAB [3], CRYBA1/A3 [4], CRYBA4 [5], CRYBB1 [6], CRYBB2 [7], CRYBB3 [8], CRYGC [9], CRYGD [10], CRYGS [11]), transcription factor (HSF4 [12], PITX3 [13],