Journal article
Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness
Nature genetics, Vol.26(3), pp.319-323
11/2000
DOI: 10.1038/81619
PMID: 11062471
Abstract
During development, visual photoreceptors, bipolar cells and other neurons establish connections within the retina enabling the eye to process visual images over approximately 7 log units of illumination. Within the retina, cells that respond to light increment and light decrement are separated into ON- and OFF-pathways. Hereditary diseases are known to disturb these retinal pathways, causing either progressive degeneration or stationary deficits. Congenital stationary night blindness (CSNB) is a group of stable retinal disorders that are characterized by abnormal night vision. Genetic subtypes of CSNB have been defined and different disease actions have been postulated. The molecular bases have been elucidated in several subtypes, providing a better understanding of the disease mechanisms and developmental retinal neurobiology. Here we have studied 22 families with 'complete' X-linked CSNB (CSNB1; MIM 310500; ref. 4) in which affected males have night blindness, some photopic vision loss and a defect of the ON-pathway. We have found 14 different mutations, including 1 founder mutation in 7 families from the United States, in a novel candidate gene, NYX. NYX, which encodes a glycosylphosphatidyl (GPI)-anchored protein called nyctalopin, is a new and unique member of the small leucine-rich proteoglycan (SLRP) family. The role of other SLRP proteins suggests that mutant nyctalopin disrupts developing retinal interconnections involving the ON-bipolar cells, leading to the visual losses seen in patients with complete CSNB.
Details
- Title: Subtitle
- Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness
- Creators
- N T Bech-Hansen - Department of Medical Genetics, Faculty of Medicine, University of Calgary, Calgary, Alberta, Canada. ntbech@ucalgary.caMargaret J NaylorT A MaybaumRebecca L Sparkes - University of CalgaryBen Koop - University of VictoriaDavid G BirchArthur A B BergenC F PrinsenRobert C PolomenoA GalArlene V DrackMaria A MusarellaSamuel G JacobsonRockefeller S.L. YoungRichard G Weleber
- Resource Type
- Journal article
- Publication Details
- Nature genetics, Vol.26(3), pp.319-323
- Publisher
- United States
- DOI
- 10.1038/81619
- PMID
- 11062471
- ISSN
- 1061-4036
- eISSN
- 1546-1718
- Grant note
- EY05235 / NEI NIH HHS EY-05627 / NEI NIH HHS
- Language
- English
- Date published
- 11/2000
- Academic Unit
- Stead Family Department of Pediatrics; Ophthalmology and Visual Sciences
- Record Identifier
- 9983980038202771
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