Congenital cataracts due to a novel 2‑bp deletion in CRYBA1/A3.

نویسندگان

  • Jing Zhang
  • Yanhua Zhang
  • Fang Fang
  • Weihong Mu
  • Ning Zhang
  • Tongshun Xu
  • Qinying Cao
چکیده

Congenital cataracts, which are a clinically and genetically heterogeneous group of eye disorders, lead to visual impairment and are a significant cause of blindness in childhood. A major proportion of the causative mutations for congenital cataracts are found in crystallin genes. In the present study, a novel deletion mutation (c.590‑591delAG) in exon 6 of CRYBA1/A3 was identified in a large family with autosomal dominant congenital cataracts. An increase in local hydrophobicity was predicted around the mutation site; however, further studies are required to determine the exact effect of the mutation on βA1/A3‑crystallin structure and function. To the best of our knowledge, this is the first report of an association between a frameshift mutation in exon 6 of CRYBA1/A3 and congenital cataracts.

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عنوان ژورنال:
  • Molecular medicine reports

دوره 10 3  شماره 

صفحات  -

تاریخ انتشار 2014