title: NYX mutations in four families with high myopia with or without CSNB1.
abstract: OBJECTIVE
  Mutations in the NYX gene are known to cause complete congenital stationary night blindness (CSNB1), which is always accompanied by high myopia. In this study, we aimed to investigate the association between NYX mutations and high myopia with or without CSNB1.
  
  
  METHODS
  Four Chinese families having high myopia with or without CSNB1 and 96 normal controls were recruited. We searched for mutations in the NYX gene using Sanger sequencing. Further analyses of the detected variations in the available family members were performed, and the frequencies of the detected variations in 96 normal controls were determined to verify our deduction. The effect of each variation on the nyctalopin protein was predicted using online tools.
  
  
  RESULTS
  Four potential pathogenic variations in the NYX gene were found in four families with high myopia with or without CSNB1. Three of the four variants were novel (c.626G>C; c.121delG; c.335T>C). The previously identified variant, c.529_530delGCinsAT, was found in an isolated highly myopic patient and an affected brother, but the other affected brother did not carry the same variation. Further linkage analyses of this family showed a coinheritance of markers at MYP1. These four mutations were not identified in the 96 normal controls.
  
  
  CONCLUSIONS
  Our study expands the mutation spectrum of NYX for cases of high myopia with CSNB1; however, more evidence is needed to elucidate the pathogenic effects of NYX on isolated high myopia.
authors: Department of Ophthalmology, Remin Hospital of Wuhan University, Wuhan, Hubei Province, People's Republic of China ; Department of Ophthalmology, Central Hospital of Enshi Autonomous Prefecture, Enshi Clinical College of Wuhan University, Enshi, Hubei Province, People's Republic of China.
authors: Lin
authors: L
authors: Zhou
authors: Department of Ophthalmology, Central Hospital of Enshi Autonomous Prefecture, Enshi Clinical College of Wuhan University, Enshi, Hubei Province, People's Republic of China.
authors: Tuo
authors: T
authors: Li
authors: Department of Ophthalmology, Central Hospital of Enshi Autonomous Prefecture, Enshi Clinical College of Wuhan University, Enshi, Hubei Province, People's Republic of China.
authors: Xiusheng
authors: X
authors: Song
authors: Department of Ophthalmology, Remin Hospital of Wuhan University, Wuhan, Hubei Province, People's Republic of China ; Department of Ophthalmology, Central Hospital of Enshi Autonomous Prefecture, Enshi Clinical College of Wuhan University, Enshi, Hubei Province, People's Republic of China.
authors: Yin
authors: Y
authors: Li
authors: Department of Ophthalmology, Central Hospital of Enshi Autonomous Prefecture, Enshi Clinical College of Wuhan University, Enshi, Hubei Province, People's Republic of China.
authors: Hongyan
authors: H
authors: Li
authors: Department of Ophthalmology, Central Hospital of Enshi Autonomous Prefecture, Enshi Clinical College of Wuhan University, Enshi, Hubei Province, People's Republic of China.
authors: Handong
authors: H
authors: Dan
mesh_terms: D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D015785:Eye Diseases, Hereditary / Q000150:complications / Q000235:genetics* / Q000473:pathology; D005190:Family; D040181:Genetic Diseases, X-Linked / Q000150:complications / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009216:Myopia / Q000150:complications / Q000235:genetics* / Q000473:pathology; D009755:Night Blindness / Q000150:complications / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D011110:Polymorphism, Genetic; D011509:Proteoglycans / Q000235:genetics*; D016415:Sequence Alignment
chemical_list: C416505:NYX protein, human; D011509:Proteoglycans