title: Identification of a novel NHS mutation in a Chinese family with Nance-Horan syndrome.
abstract: OBJECTIVE
  To identiy the disease causing mutation in a Chinese family presenting with early-onset cataract and dental anomalies.
  
  
  METHODS
  A specific Hereditary Eye Disease Enrichment Panel (HEDEP) (personalized customization by MyGenostics, Baltimore, MD) based on targeted exome capture technology was used to collect the protein coding regions of 30 early-onset cataract associated genes, and high throughput sequencing was done with Illumina HiSeq 2000 platform. The identified variant was confirmed with Sanger sequencing.
  
  
  RESULTS
  A novel deletion in exon 4 (c.852delG) of NHS gene was identified; the identified 1 bp deletion altered the reading frame and was predicted to result in a premature stop codon after the addition of twelve novel amino acid (p.S285PfsX13). This mutation co-segregated in affected males and obligate female carriers, but was absent in 100 matched controls.
  
  
  CONCLUSIONS
  Our findings broaden the spectrum of NHS mutations causing Nance-Horan syndrome and phenotypic spectrum of the disease in Chinese patients.
authors.affiliation: Key Laboratory of Vision Loss and Restoration, Ministry of Education, Peking University Eye Center, Peking University Third Hospital , Beijing , P. R. China.
authors.forename: Aijun
authors.initials: A
authors.lastname: Li
authors.forename: Bingzhen
authors.initials: B
authors.lastname: Li
authors.forename: Lemeng
authors.initials: L
authors.lastname: Wu
authors.forename: Liping
authors.initials: L
authors.lastname: Yang
authors.forename: Ningning
authors.initials: N
authors.lastname: Chen
authors.forename: Zhizhong
authors.initials: Z
authors.lastname: Ma
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002386:Cataract / Q000151:congenital* / Q000235:genetics; D002648:Child; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins; D008875:Middle Aged; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D017384:Sequence Deletion; D014071:Tooth Abnormalities / Q000235:genetics*; D055815:Young Adult
chemical_list: D018389:Codon, Nonsense; D008565:Membrane Proteins; C488621:NHS protein, human; D009687:Nuclear Proteins
keywords: Chinese; NHS gene; early-onset cataract; mutation; nance-Horan syndrome