Kleine-Levin syndrome

Gene: MOG

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. One variant reported in large Spanish family

Created: 5 Jan 2017, 10:47 a.m.

Comment on list classification: Based on comments from Expert reviewer Rosa Peraita-Adrados and that it is used diagnostically

Created: 5 Jan 2017, 10:46 a.m.

Green List (high evidence)

Hor H et al. A missense mutation in myelin oligodendrocyte glycoprotein as a cause of familial narcolepsy with cataplexy. Am J Hum Genet. 2011 Sep 9;89(3):474-9.
We 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. We successfully mapped a candidate locus on chromosomal region 6p22.1 (LOD score ¼ 3.85) by linkage analysis. Exome sequencing identified a missense mutation in the second exon of MOG within the linkage region. A c.398C>G mutation was present in all affected family members but absent in unaffected members and 775 unrelated control subjects.

Created: 19 Dec 2016, 2:58 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
excessive daytime sleepiness with cataplexy; hypnagogic hallucinations, hypocretin deficiency; type 2 diabetes mellitus; morbid obesity; addition

Publications

• PMID: 21907016

Variants in this GENE are reported as part of current diagnostic practice