A missense mutation in myelin oligodendrocyte glycoprotein as a cause of familial narcolepsy with cataplexy.
Hor H, Bartesaghi L, Kutalik Z, Vicário JL, de Andrés C, Pfister C, Lammers GJ, Guex N, Chrast R, Tafti M, Peraita-Adrados R.
Source
Center for Integrative Genomics (CIG), University of Lausanne, 1015 Lausanne, Switzerland.
Abstract
Narcolepsy is a rare sleep disorder characterized by excessive daytime sleepiness and cataplexy. Familial narcolepsy accounts for less than 10% of all narcolepsy cases. However, documented multiplex families are very rare and causative mutations have not been identified to date. To identify a causative mutation in familial narcolepsy, we performed linkage analysis in the largest ever reported family, which has 12 affected members, and sequenced coding regions of the genome (exome sequencing) of three affected members with narcolepsy and cataplexy.
Copyright © 2011 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
- PMID:
- 21907016
- [PubMed – in process]