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.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Aged
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Amino Acid Sequence
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Asian People / genetics
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Child
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China
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DNA Mutational Analysis
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Eye Diseases, Hereditary / genetics*
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Eye Diseases, Hereditary / metabolism
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Female
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Genes, X-Linked*
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Genetic Diseases, X-Linked / genetics*
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Genetic Diseases, X-Linked / metabolism
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Humans
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Male
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Middle Aged
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Molecular Sequence Data
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Mutation*
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Myopia / genetics*
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Myopia / metabolism
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Night Blindness / genetics*
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Night Blindness / metabolism
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Pedigree
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Protein Conformation
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Proteoglycans / genetics*
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Proteoglycans / metabolism
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Sequence Alignment
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Young Adult
Substances
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NYX protein, human
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Proteoglycans
Supplementary concepts
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Night blindness, congenital stationary