title: Two Novel NYX Gene Mutations in the Chinese Families with X-linked Congenital Stationary Night Blindness.
abstract: Mutations in NYX and CACNA1F gene are responsible for the X-linked congenital stationary night blindness (CSNB). In this study, we described the clinical characters of the two Chinese families with X-linked CSNB and detected two novel mutations of c. 371_377delGCTACCT and c.214A>C in the NYX gene by direct sequencing. These two mutations would expand the mutation spectrum of NYX. Our study would be helpful for further studying molecular pathogenesis of CSNB.
authors.affiliation: 1] Henan Eye Institute, Henan Eye Hospital, Henan, People's Republic of China [2] Tianjin Key Lab of Ophthalmology and Visual Science, Tianjin Eye Institute, Tianjin, People's Republic of China.
authors.forename: Shuzhen
authors.initials: S
authors.lastname: Dai
authors.affiliation: 1] Tianjin Key Lab of Ophthalmology and Visual Science, Tianjin Eye Institute, Tianjin, People's Republic of China [2] Tianjin Eye Hospital, Clinical College of Ophthalmology, Tianjin Medical University, Tianjin, People's Republic of China.
authors.forename: Ming
authors.initials: M
authors.lastname: Ying
authors.affiliation: 1] Tianjin Key Lab of Ophthalmology and Visual Science, Tianjin Eye Institute, Tianjin, People's Republic of China [2] Tianjin Eye Hospital, Clinical College of Ophthalmology, Tianjin Medical University, Tianjin, People's Republic of China.
authors.forename: Kai
authors.initials: K
authors.lastname: Wang
authors.affiliation: 1] Tianjin Key Lab of Ophthalmology and Visual Science, Tianjin Eye Institute, Tianjin, People's Republic of China [2] Tianjin Eye Hospital, Clinical College of Ophthalmology, Tianjin Medical University, Tianjin, People's Republic of China.
authors.forename: Liming
authors.initials: L
authors.lastname: Wang
authors.affiliation: 1] Tianjin Key Lab of Ophthalmology and Visual Science, Tianjin Eye Institute, Tianjin, People's Republic of China [2] Tianjin Eye Hospital, Clinical College of Ophthalmology, Tianjin Medical University, Tianjin, People's Republic of China.
authors.forename: Ruifang
authors.initials: R
authors.lastname: Han
authors.affiliation: 1] Tianjin Key Lab of Ophthalmology and Visual Science, Tianjin Eye Institute, Tianjin, People's Republic of China [2] Tianjin Eye Hospital, Clinical College of Ophthalmology, Tianjin Medical University, Tianjin, People's Republic of China.
authors.forename: Peng
authors.initials: P
authors.lastname: Hao
authors.affiliation: 1] Tianjin Key Lab of Ophthalmology and Visual Science, Tianjin Eye Institute, Tianjin, People's Republic of China [2] Tianjin Eye Hospital, Clinical College of Ophthalmology, Tianjin Medical University, Tianjin, People's Republic of China.
authors.forename: Ningdong
authors.initials: N
authors.lastname: Li
mesh_terms: D000328:Adult; D000368:Aged; D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics; D002648:Child; D002681:China; D004252:DNA Mutational Analysis; D015785:Eye Diseases, Hereditary / Q000235:genetics* / Q000378:metabolism; D005260:Female; D050172:Genes, X-Linked; D040181:Genetic Diseases, X-Linked / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D009216:Myopia / Q000235:genetics* / Q000378:metabolism; D009755:Night Blindness / Q000235:genetics* / Q000378:metabolism; D010375:Pedigree; D011487:Protein Conformation; D011509:Proteoglycans / Q000235:genetics* / Q000378:metabolism; D016415:Sequence Alignment; D055815:Young Adult
chemical_list: C416505:NYX protein, human; D011509:Proteoglycans