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Molecular Medicine Reports
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September-2014 Volume 10 Issue 3

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Article

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
  • View Affiliations / Copyright

    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
  • Pages: 1614-1618
    |
    Published online on: June 13, 2014
       https://doi.org/10.3892/mmr.2014.2324
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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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Copy and paste a formatted citation
Spandidos Publications style
Zhang J, Zhang Y, Fang F, Mu W, Zhang N, Xu T and Cao Q: Congenital cataracts due to a novel 2‑bp deletion in CRYBA1/A3. Mol Med Rep 10: 1614-1618, 2014.
APA
Zhang, J., Zhang, Y., Fang, F., Mu, W., Zhang, N., Xu, T., & Cao, Q. (2014). Congenital cataracts due to a novel 2‑bp deletion in CRYBA1/A3. Molecular Medicine Reports, 10, 1614-1618. https://doi.org/10.3892/mmr.2014.2324
MLA
Zhang, J., Zhang, Y., Fang, F., Mu, W., Zhang, N., Xu, T., Cao, Q."Congenital cataracts due to a novel 2‑bp deletion in CRYBA1/A3". Molecular Medicine Reports 10.3 (2014): 1614-1618.
Chicago
Zhang, J., Zhang, Y., Fang, F., Mu, W., Zhang, N., Xu, T., Cao, Q."Congenital cataracts due to a novel 2‑bp deletion in CRYBA1/A3". Molecular Medicine Reports 10, no. 3 (2014): 1614-1618. https://doi.org/10.3892/mmr.2014.2324
Copy and paste a formatted citation
x
Spandidos Publications style
Zhang J, Zhang Y, Fang F, Mu W, Zhang N, Xu T and Cao Q: Congenital cataracts due to a novel 2‑bp deletion in CRYBA1/A3. Mol Med Rep 10: 1614-1618, 2014.
APA
Zhang, J., Zhang, Y., Fang, F., Mu, W., Zhang, N., Xu, T., & Cao, Q. (2014). Congenital cataracts due to a novel 2‑bp deletion in CRYBA1/A3. Molecular Medicine Reports, 10, 1614-1618. https://doi.org/10.3892/mmr.2014.2324
MLA
Zhang, J., Zhang, Y., Fang, F., Mu, W., Zhang, N., Xu, T., Cao, Q."Congenital cataracts due to a novel 2‑bp deletion in CRYBA1/A3". Molecular Medicine Reports 10.3 (2014): 1614-1618.
Chicago
Zhang, J., Zhang, Y., Fang, F., Mu, W., Zhang, N., Xu, T., Cao, Q."Congenital cataracts due to a novel 2‑bp deletion in CRYBA1/A3". Molecular Medicine Reports 10, no. 3 (2014): 1614-1618. https://doi.org/10.3892/mmr.2014.2324
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