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

Zhang,Jing; Zhang,Yanhua; Fang,Fang; Mu,Weihong; Zhang,Ning; Xu,Tongshun; Cao,Qinying

doi:10.3892/mmr.2014.2324

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

Authors:
- Jing Zhang
- Yanhua Zhang
- Fang Fang
- Weihong Mu
- Ning Zhang
- Tongshun Xu
- Qinying Cao
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Affiliations: Prenatal Diagnosis Center, Shijiazhuang Obstetrics and Gynecology Hospital, Shijiazhuang, Hebei, P.R. China, Department of Cardiology, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, P.R. China, Department of Surgery, Shijiazhuang Obstetrics and Gynecology Hospital, Shijiazhuang, Hebei, P.R. China
Published online on: June 13, 2014 https://doi.org/10.3892/mmr.2014.2324
Pages: 1614-1618

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Abstract

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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