title: [Analysis of gene mutation in a Chinese family with Norrie disease].
abstract: OBJECTIVE
  To detect the pathogenic mutation in a Chinese family with Norrie disease.
  
  
  METHODS
  Clinical diagnosis was based on familial history, clinical sign and B ultrasonic examination. Peripheral blood samples were obtained from all available members in a Chinese family with Norrie disease. Genomic DNA was extracted from lymphocytes by the standard SDS-proteinase K-phenol/chloroform method. Two coding exons and all intron-exon boundaries of the NDP gene were PCR amplified using three pairs of primers and subjected to automatic DNA sequence. The causative mutation was confirmed by restriction enzyme analysis and genotyping analysis in all members.
  
  
  RESULTS
  Sequence analysis of NDP gene revealed a missense mutation c.220C > T (p.Arg74Cys) in the proband and his mother. Further mutation identification by restriction enzyme analysis and genotyping analysis showed that the proband was homozygote of this mutation. His mother and other four unaffected members (III3, IV4, III5 and II2) were carriers of this mutation. The mutant amino acid located in the C-terminal cystine knot-like domain, which was critical motif for the structure and function of NDP.
  
  
  CONCLUSIONS
  A NDP missense mutation was identified in a Chinese family with Norrie disease.
authors.affiliation: Department of Ophthalmology, China Medical University, Shenyang, China.
authors.forename: Tian-xiao
authors.initials: TX
authors.lastname: Zhang
authors.forename: Xiu-li
authors.initials: XL
authors.lastname: Zhao
authors.forename: Rui
authors.initials: R
authors.lastname: Hua
authors.forename: Jin-song
authors.initials: JS
authors.lastname: Zhang
authors.forename: Xue
authors.initials: X
authors.lastname: Zhang
mesh_terms: D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D001766:Blindness / Q000151:congenital* / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D040181:Genetic Diseases, X-Linked; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009422:Nervous System Diseases / Q000235:genetics*; D010375:Pedigree; D012162:Retinal Degeneration; D013036:Spasms, Infantile / Q000235:genetics*
chemical_list: D005136:Eye Proteins; C081848:NDP protein, human; D009419:Nerve Tissue Proteins