title: A novel COL4A1 gene mutation results in autosomal dominant non-syndromic congenital cataract in a Chinese family.
abstract: BACKGROUND
  Almost one-third of congenital cataracts are primarily autosomal dominant disorders, which are also called autosomal dominant congenital cataract, resulting in blindness and clouding of the lens. The purpose of this study was to identify the disease-causing mutation in a Chinese family affected by bilateral, autosomal dominant congenital cataract.
  
  
  METHODS
  The detection of candidate gene mutation and the linkage analysis of microsatellite markers were performed for the known candidate genes. Molecular mapping and cloning of candidate genes were used in all affected family members to screen for potential genetic mutations and the mutation was confirmed by single enzyme digestion.
  
  
  RESULTS
  The proband was diagnosed with isolated, congenital cataract without the typical clinical manifestations of cataract, which include diabetes, porencephaly, sporadic intracerebral hemorrhage, and glomerulopathy. A novel mutation, c.2345 G > C (Gly782Ala), in exon 31 of the collagen type IV αlpha1 (COL4A1) gene, which encodes the collagen alpha-1(IV) chain, was found to be associated with autosomal dominant congenital cataract in a Chinese family. This mutation was not found in unaffected family members or in 200 unrelated controls. Sequence analysis confirmed that the Gly782 amino acid residue is highly conserved.
  
  
  CONCLUSIONS
  The novel mutation (c.2345 G > C) of the COL4A1 gene is the first report of a non-syndromic, autosomal dominant congenital cataract, thereby highlighting the important role of type IV collagen in the physiological and optical properties of the lens.
authors.forename: Xin-Yi
authors.initials: XY
authors.lastname: Xia
authors.forename: Na
authors.initials: N
authors.lastname: Li
authors.forename: Xiang
authors.initials: X
authors.lastname: Cao
authors.forename: Qiu-Yue
authors.initials: QY
authors.lastname: Wu
authors.forename: Tian-Fu
authors.initials: TF
authors.lastname: Li
authors.forename: Cui
authors.initials: C
authors.lastname: Zhang
authors.forename: Wei-Wei
authors.initials: WW
authors.lastname: Li
authors.forename: Ying-Xia
authors.initials: YX
authors.lastname: Cui
authors.affiliation: Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine, 305 East Zhongshan Road, Nanjing 210002, People's Republic of China. lixiaojun1962@gmail.com.
authors.forename: Xiao-Jun
authors.initials: XJ
authors.lastname: Li
authors.forename: Chun-Yan
authors.initials: CY
authors.lastname: Xue
mesh_terms: D044466:Asian People / Q000235:genetics; D002386:Cataract / Q000151:congenital* / Q000235:genetics* / Q000473:pathology; D002882:Chromosomes, Human, Pair 13; D024141:Collagen Type IV / Q000235:genetics*; D019143:Evolution, Molecular; D005091:Exons; D005260:Female; D014644:Genetic Variation; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree; D017421:Sequence Analysis
chemical_list: C547475:COL4A1 protein, human; D024141:Collagen Type IV