title: A novel nonsense mutation in the NDP gene in a Chinese family with Norrie disease.
abstract: OBJECTIVE
  Norrie disease (ND), a rare X-linked recessive disorder, is characterized by congenital blindness and, occasionally, mental retardation and hearing loss. ND is caused by the Norrie Disease Protein gene (NDP), which codes for norrin, a cysteine-rich protein involved in ocular vascular development. Here, we report a novel mutation of NDP that was identified in a Chinese family in which three members displayed typical ND symptoms and other complex phenotypes, such as cerebellar atrophy, motor disorders, and mental disorders.
  
  
  METHODS
  We conducted an extensive clinical examination of the proband and performed a computed tomography (CT) scan of his brain. Additionally, we performed ophthalmic examinations, haplotype analyses, and NDP DNA sequencing for 26 individuals from the proband's extended family.
  
  
  RESULTS
  The proband's computed tomography scan, in which the fifth ventricle could be observed, indicated cerebellar atrophy. Genome scans and haplotype analyses traced the disease to chromosome Xp21.1-p11.22. Mutation screening of the NDP gene identified a novel nonsense mutation, c.343C>T, in this region.
  
  
  CONCLUSIONS
  Although recent research has shown that multiple different mutations can be responsible for the ND phenotype, additional research is needed to understand the mechanism responsible for the diverse phenotypes caused by mutations in the NDP gene.
authors.affiliation: The State Key Laboratory of Medical Genetics of China, Central South University, ChangSha, China.
authors.forename: Deyuan
authors.initials: D
authors.lastname: Liu
authors.forename: Zhengmao
authors.initials: Z
authors.lastname: Hu
authors.forename: Yu
authors.initials: Y
authors.lastname: Peng
authors.forename: Changhong
authors.initials: C
authors.lastname: Yu
authors.forename: Yalan
authors.initials: Y
authors.lastname: Liu
authors.forename: Xiaoyun
authors.initials: X
authors.lastname: Mo
authors.forename: Xiaoping
authors.initials: X
authors.lastname: Li
authors.forename: Lina
authors.initials: L
authors.lastname: Lu
authors.forename: Xiaojuan
authors.initials: X
authors.lastname: Xu
authors.forename: Wei
authors.initials: W
authors.lastname: Su
authors.forename: Qian
authors.initials: Q
authors.lastname: Pan
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
mesh_terms: D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D001766:Blindness / Q000151:congenital / Q000000981:diagnostic imaging / Q000235:genetics; D002681:China; D002874:Chromosome Mapping; D018389:Codon, Nonsense / Q000235:genetics*; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D005190:Family; D005260:Female; D040181:Genetic Diseases, X-Linked; D008040:Genetic Linkage; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008126:Lod Score; D008279:Magnetic Resonance Imaging; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009422:Nervous System Diseases / Q000000981:diagnostic imaging / Q000235:genetics; D010375:Pedigree; D011247:Pregnancy; D011995:Recombination, Genetic; D012162:Retinal Degeneration; D013036:Spasms, Infantile / Q000000981:diagnostic imaging / Q000235:genetics; D014057:Tomography, X-Ray Computed; D055815:Young Adult
chemical_list: D018389:Codon, Nonsense; D005136:Eye Proteins; C081848:NDP protein, human; D009419:Nerve Tissue Proteins