title: [Analysis of the NDP gene in a Chinese family with X-linked recessive Norrie disease].
abstract: OBJECTIVE
  The purpose of the current research was to investigate the NDP (Norrie disease protein) gene in one Chinese family with Norrie disease (ND) and to characterize the related clinical features.
  
  
  METHODS
  Clinical data of the proband and his family members were collected. Complete ophthalmic examinations were carried out on the proband. Genomic DNA was extracted from peripheral blood leukocytes of 35 family members. Molecular analysis of the NDP gene was performed by polymerase chain reaction and direct sequencing of all exons and flanking regions.
  
  
  RESULTS
  A hemizygous NDP missense mutation c.362G > A (p.Arg121Gln) in exon 3 was identified in the affected members, but not in any of the unaffected family individuals.
  
  
  CONCLUSIONS
  The missense mutation c.362G > A in NDP is responsible for the Norrie disease in this family. This discovery will help provide the family members with accurate and reliable genetic counseling and prenatal diagnosis.
authors: Hunan Jiahui Genetics Hospital, State Key Laboratory of Medical Genetics, Central South University, Changsha 410078, China.
authors: Libin
authors: L
authors: Mei
authors: Yanru
authors: Y
authors: Huang
authors: Qian
authors: Q
authors: Pan
authors: Desheng
authors: D
authors: Liang
authors: Email: wulingqian@sklmg.edu.cn.
authors: Lingqian
authors: L
authors: Wu
mesh_terms: D044466:Asian People; D001766:Blindness / Q000151:congenital* / Q000235:genetics; D002681:China; D005091:Exons; D005136:Eye Proteins / Q000235:genetics*; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009422:Nervous System Diseases / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012162:Retinal Degeneration; D017422:Sequence Analysis, DNA; D013036:Spasms, Infantile / Q000235:genetics*
chemical_list: D005136:Eye Proteins; C081848:NDP protein, human; D009419:Nerve Tissue Proteins