title: Congenital cataracts due to a novel 2‑bp deletion in CRYBA1/A3.
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.
authors.affiliation: Prenatal Diagnosis Center, Shijiazhuang Obstetrics and Gynecology Hospital, Shijiazhuang, Hebei, P.R. China.
authors.forename: Jing
authors.initials: J
authors.lastname: Zhang
authors.affiliation: Prenatal Diagnosis Center, Shijiazhuang Obstetrics and Gynecology Hospital, Shijiazhuang, Hebei, P.R. China.
authors.forename: Yanhua
authors.initials: Y
authors.lastname: Zhang
authors.affiliation: Prenatal Diagnosis Center, Shijiazhuang Obstetrics and Gynecology Hospital, Shijiazhuang, Hebei, P.R. China.
authors.forename: Fang
authors.initials: F
authors.lastname: Fang
authors.affiliation: Prenatal Diagnosis Center, Shijiazhuang Obstetrics and Gynecology Hospital, Shijiazhuang, Hebei, P.R. China.
authors.forename: Weihong
authors.initials: W
authors.lastname: Mu
authors.affiliation: Department of Cardiology, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, P.R. China.
authors.forename: Ning
authors.initials: N
authors.lastname: Zhang
authors.affiliation: Department of Surgery, Shijiazhuang Obstetrics and Gynecology Hospital, Shijiazhuang, Hebei, P.R. China.
authors.forename: Tongshun
authors.initials: T
authors.lastname: Xu
authors.affiliation: Prenatal Diagnosis Center, Shijiazhuang Obstetrics and Gynecology Hospital, Shijiazhuang, Hebei, P.R. China.
authors.forename: Qinying
authors.initials: Q
authors.lastname: Cao
mesh_terms: D044466:Asian People / Q000235:genetics; D002386:Cataract / Q000235:genetics*; D019295:Computational Biology; D005091:Exons; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D010375:Pedigree; D038205:beta-Crystallin A Chain / Q000235:genetics*
chemical_list: C489108:CRYBA1 protein, human; D038205:beta-Crystallin A Chain