title: A novel mutation of p.F32I inGJA8in human dominant congenital cataracts.
abstract: OBJECTIVE
  To identify a causative mutation in a three-generation family with autosomal dominant congenital total cataract and dissect the molecular consequence of the identified mutation.
  
  
  METHODS
  Clinical and ophthalmological examinations were performed on the affected and unaffected family members. Mutation were screened in recruited family members by polymerase chain reaction (PCR) of the two reported genes (CRYAAandGJA8) which were linked to human total cataracts and direct sequencing of the PCR product. The molecular consequences of the identified mutation was dissected. The plasmids carrying wild-type and mutant mouseORFofGja8, coding for connexin 50 (Cx50), were generated and ectopic expressed in 293 cells. Recombinant protein expression and cellular localization of recombinated Cx50 were assessed by confocal microscopy.
  
  
  RESULTS
  Clinical and ophthalmological examinations were performed on the affected and unaffected family members. Mutation were screened in recruited family members by PCR of the two reported genes (CRYAAandGJA8) which were linked to human total cataracts and direct sequencing of the PCR product. The molecular consequences of the identified mutation was dissected. The plasmids carrying wild-type and mutant mouseORFofGja8, coding for Cx50, were generated and ectopic expressed in 293 cells. Recombinant protein expression and cellular localization of recombinated Cx50 were assessed by confocal microscopy.
  
  
  CONCLUSIONS
  This study has identified a novel cataract mutation inGJA8, which adds a novel mutation to the existing spectrum of Cx50 mutations with cataract. The molecular consequences of p.F32I mutation inGJA8exclude instability and the mislocalization of mutant Cx50 protein.
authors.affiliation: Department of Ophthalmology, the First Affiliated Hospital of Fujian Medical University, Fuzhou 350005, Fujian Province, China.
authors.forename: Feng-Tao
authors.initials: FT
authors.lastname: Dang
authors.affiliation: School of Ophthalmology and Optometry, Eye Hospital, Wenzhou Medical University, State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health and Zhejiang Provincial Key Laboratory of Ophthalmology and Optometry, Wenzhou 325027, Zhejiang Province, China.
authors.forename: Fa-Yu
authors.initials: FY
authors.lastname: Yang
authors.affiliation: School of Nursing, Wenzhou Medical University, Wenzhou 325000, Zhejiang Province, China.
authors.forename: Ye-Qin
authors.initials: YQ
authors.lastname: Yang
authors.affiliation: School of Ophthalmology and Optometry, Eye Hospital, Wenzhou Medical University, State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health and Zhejiang Provincial Key Laboratory of Ophthalmology and Optometry, Wenzhou 325027, Zhejiang Province, China.
authors.forename: Xiang-Lian
authors.initials: XL
authors.lastname: Ge
authors.affiliation: School of Ophthalmology and Optometry, Eye Hospital, Wenzhou Medical University, State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health and Zhejiang Provincial Key Laboratory of Ophthalmology and Optometry, Wenzhou 325027, Zhejiang Province, China.
authors.forename: Ding
authors.initials: D
authors.lastname: Chen
authors.affiliation: Department of Ophthalmology, the First Affiliated Hospital of Fujian Medical University, Fuzhou 350005, Fujian Province, China.
authors.forename: Liu
authors.initials: L
authors.lastname: Zhang
authors.affiliation: School of Ophthalmology and Optometry, Eye Hospital, Wenzhou Medical University, State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health and Zhejiang Provincial Key Laboratory of Ophthalmology and Optometry, Wenzhou 325027, Zhejiang Province, China.
authors.forename: Xin-Ping
authors.initials: XP
authors.lastname: Yu
authors.affiliation: School of Ophthalmology and Optometry, Eye Hospital, Wenzhou Medical University, State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health and Zhejiang Provincial Key Laboratory of Ophthalmology and Optometry, Wenzhou 325027, Zhejiang Province, China.
authors.forename: Feng
authors.initials: F
authors.lastname: Gu
authors.affiliation: Department of Ophthalmology, the First Affiliated Hospital of Fujian Medical University, Fuzhou 350005, Fujian Province, China.
authors.forename: Yi-Hua
authors.initials: YH
authors.lastname: Zhu
keywords: GJA8; cataracts; connexin 50; molecular consequences; mutation