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.
Highlights
Mutations in NYX and CACNA1F gene are responsible for the X-linked congenital stationary night blindness (CSNB)
Ophthalmologic examination showed that the patients had decreased visual acuity, variable degrees of myopia, latent nystagmus, and extropia combined with dissociated vertical deviation (DVD)
A member of the leucine-rich repeat (LRR) superfamilies, containing 11 consecutive LRRs flanked by N- and C-terminal cysteine-rich LRRs, as well as an N-terminal ER signal peptide and a C-terminal glycosylphosphatidylinositol (GPI) membrane anchor[10]
Summary
Mutations in NYX and CACNA1F gene are responsible for the X-linked congenital stationary night blindness (CSNB). We described the clinical characters of the two Chinese families with X-linked CSNB and detected two novel mutations of c. Congenital stationary night blindness (CSNB) is a group of clinically and genetically heterogeneous retinal disorders characterized by night blindness, decreased visual acuity, and a reduced or absent b-wave in the electroretinogram (ERG)[1]. NYX and CACNA1F genes are two disease-causing genes for X-linked congenital stationary night blindness. Molecular genetic analysis of the two candidate genes (NYX and CACNA1F) indicated that two novel mutations in the NYX were detected in these two families
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
