title: A novel MIP mutation in familial congenital nuclear cataracts.
abstract: We screened 60 known genes which are involved in inherited cataract in a pregnant woman with a four-generation family history of autosomal dominant congenital nuclear cataract through next-generation sequencing (NGS) and identified a heterozygous mutation, c.508dupC (p.L170fs), in the major intrinsic protein (MIP) gene. This mutation results in a frame-shift in MIP and has not been previously reported. The correlation of the mutation with disease was validated by Sanger sequencing of DNA from the other affected or unaffected members of the family. Therefore, our data expand the mutation spectrum of MIP mutation, and suggest that NGS is an accurate, rapid, and cost-effective method in the genetic diagnosis of congenital nuclear cataract.
authors.affiliation: Medical Genetic Institute of Henan Province, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, Henan, China. Electronic address: litao_qin@163.com.
authors.forename: Litao
authors.initials: L
authors.lastname: Qin
authors.affiliation: Medical Genetic Institute of Henan Province, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, Henan, China.
authors.forename: Liangjie
authors.initials: L
authors.lastname: Guo
authors.affiliation: Medical Genetic Institute of Henan Province, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, Henan, China.
authors.forename: Hongdan
authors.initials: H
authors.lastname: Wang
authors.affiliation: Medical Genetic Institute of Henan Province, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, Henan, China.
authors.forename: Tao
authors.initials: T
authors.lastname: Li
authors.affiliation: Medical Genetic Institute of Henan Province, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, Henan, China.
authors.forename: Guiyu
authors.initials: G
authors.lastname: Lou
authors.affiliation: Medical Genetic Institute of Henan Province, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, Henan, China.
authors.forename: Qiannan
authors.initials: Q
authors.lastname: Guo
authors.affiliation: Medical Genetic Institute of Henan Province, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, Henan, China.
authors.forename: Qiaofang
authors.initials: Q
authors.lastname: Hou
authors.affiliation: Medical Genetic Institute of Henan Province, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, Henan, China.
authors.forename: Hongyan
authors.initials: H
authors.lastname: Liu
authors.affiliation: Medical Genetic Institute of Henan Province, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, Henan, China. Electronic address: litao_qin@163.com.
authors.forename: Shixiu
authors.initials: S
authors.lastname: Liao
authors.affiliation: Department of Immunology, Biochemistry and Molecular Biology, 2011 Collaborative Innovation Center of Tianjin for Medical Epigenetics, Tianjin Key Laboratory of Medical Epigenetics, Tianjin Medical University, Tianjin, China; Key Laboratory of Immune Microenvironment and Disease of the Ministry of Education, Tianjin Medical University, Tianjin, China. Electronic address: zheliu@tmu.edu.cn.
authors.forename: Zhe
authors.initials: Z
authors.lastname: Liu
mesh_terms: D000328:Adult; D020346:Aquaporins / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D002386:Cataract / Q000151:congenital* / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D006579:Heterozygote; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008297:Male; D010375:Pedigree
chemical_list: D020346:Aquaporins; D005136:Eye Proteins; C030328:aquaporin 0
keywords: Autosomal dominant; Congenital nuclear cataract; MIP gene mutation; Next-generation sequencing