title: Identification of a novel splice-site mutation in MIP in a Chinese congenital cataract family.
abstract: OBJECTIVE
  To map the locus and identify the gene causing autosomal dominant congenital cataract (ADCC) with "snail-like" phenotype in a large Chinese family.
  
  
  METHODS
  Clinical and ophthalmologic examinations were conducted on family members and documented by slit lamp photography. Linkage analysis was performed with an initial 41 microsatellite markers, then 3 additional markers flanking the major intrinsic protein (MIP) gene. Mutations were screened by DNA sequencing and verified by restriction fragment length polymorphism (RFLP) analysis.
  
  
  RESULTS
  Significant two-point LOD scores were obtained at 5 markers flanking MIP with the highest 3.08 (theta=0.00) at marker D12S1632. Mutation screening of MIP identified a heterozygous G>A transition at the acceptor splice site of intron 3 (IVS3 -1 G>A), abolishing a BstSF I restriction site in one allele of all the affected individuals.
  
  
  CONCLUSIONS
  We identified a novel splice-site mutation (IVS3 -1 G>A in MIP) in a Chinese ADCC family. To our knowledge, this is the first report on an acceptor splice-site mutation in human genes associated with ADCC.
authors.affiliation: Eye Center of the 2nd Affiliated Hospital, Medical College of Zhejiang University, Hangzhou, China.
authors.forename: Jin
authors.initials: J
authors.lastname: Jiang
authors.forename: Chongfei
authors.initials: C
authors.lastname: Jin
authors.forename: Wei
authors.initials: W
authors.lastname: Wang
authors.forename: Xiajing
authors.initials: X
authors.lastname: Tang
authors.forename: Xingchao
authors.initials: X
authors.lastname: Shentu
authors.forename: Renyi
authors.initials: R
authors.lastname: Wu
authors.forename: Yao
authors.initials: Y
authors.lastname: Wang
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.forename: Ke
authors.initials: K
authors.lastname: Yao
mesh_terms: D020346:Aquaporins / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002386:Cataract / Q000151:congenital* / Q000235:genetics* / Q000473:pathology; D002681:China; D020090:Chromosome Segregation; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D005190:Family; D005260:Female; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D022821:RNA Splice Sites / Q000235:genetics*
chemical_list: D020346:Aquaporins; D005136:Eye Proteins; D022821:RNA Splice Sites; C030328:aquaporin 0