ITEM METADATA RECORD
Title: Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness
Authors: Audo, Isabelle ×
Bujakowska, Kinga
Orhan, Elise
Poloschek, Charlotte M
Defoort-Dhellemmes, Sabine
Drumare, Isabelle
Kohl, Susanne
Luu, Tien D
Lecompte, Odile
Zrenner, Eberhart
Lancelot, Marie-Elise
Antonio, Aline
Germain, Aurore
Michiels, Christelle
Audier, Claire
Letexier, Mélanie
Saraiva, Jean-Paul
Leroy, Bart P
Munier, Francis L
Mohand-Saïd, Saddek
Lorenz, Birgit
Friedburg, Christoph
Preising, Markus
Kellner, Ulrich
Renner, Agnes B
Moskova-Doumanova, Veselina
Berger, Wolfgang
Wissinger, Bernd
Hamel, Christian P
Schorderet, Daniel F
De Baere, Elfride
Sharon, Dror
Banin, Eyal
Jacobson, Samuel G
Bonneau, Dominique
Zanlonghi, Xavier
Le Meur, Guylene
Casteels, Ingele
Koenekoop, Robert
Long, Vernon W
Meire, Francoise
Prescott, Katrina
de Ravel de l'Argentière, Thomy
Simmons, Ian
Nguyen, Hoan
Dollfus, Hélène
Poch, Olivier
Léveillard, Thierry
Nguyen-Ba-Charvet, Kim
Sahel, José-Alain
Bhattacharya, Shomi S
Zeitz, Christina #
Issue Date: Feb-2012
Publisher: American Society of Human Genetics
Series Title: American Journal of Human Genetics vol:90 issue:2 pages:321-330
Abstract: Congenital stationary night blindness (CSNB) is a heterogeneous retinal disorder characterized by visual impairment under low light conditions. This disorder is due to a signal transmission defect from rod photoreceptors to adjacent bipolar cells in the retina. Two forms can be distinguished clinically, complete CSNB (cCSNB) or incomplete CSNB; the two forms are distinguished on the basis of the affected signaling pathway. Mutations in NYX, GRM6, and TRPM1, expressed in the outer plexiform layer (OPL) lead to disruption of the ON-bipolar cell response and have been seen in patients with cCSNB. Whole-exome sequencing in cCSNB patients lacking mutations in the known genes led to the identification of a homozygous missense mutation (c.1807C>T [p.His603Tyr]) in one consanguineous autosomal-recessive cCSNB family and a homozygous frameshift mutation in GPR179 (c.278delC [p.Pro93Glnfs(∗)57]) in a simplex male cCSNB patient. Additional screening with Sanger sequencing of 40 patients identified three other cCSNB patients harboring additional allelic mutations in GPR179. Although, immunhistological studies revealed Gpr179 in the OPL in wild-type mouse retina, Gpr179 did not colocalize with specific ON-bipolar markers. Interestingly, Gpr179 was highly concentrated in horizontal cells and Müller cell endfeet. The involvement of these cells in cCSNB and the specific function of GPR179 remain to be elucidated.
URI: 
ISSN: 0002-9297
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Research Group Ophthalmology
× corresponding author
# (joint) last author

Files in This Item:
File Description Status SizeFormat
Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness.pdf Published 828KbAdobe PDFView/Open Request a copy

These files are only available to some KU Leuven Association staff members

 




All items in Lirias are protected by copyright, with all rights reserved.

© Web of science