LMOD3 gene variant in familial periodic hypersomnolence.

Details

Ressource 1Download: LMOD3 gene variant in familial periodic hypersomnolence.pdf (368.29 [Ko])
State: Public
Version: Final published version
License: CC BY-NC-ND 4.0
Serval ID
serval:BIB_A5E318D9A3DC
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
LMOD3 gene variant in familial periodic hypersomnolence.
Journal
Sleep medicine
Author(s)
Wenz E., Tafti M., Bassetti CLA
ISSN
1878-5506 (Electronic)
ISSN-L
1389-9457
Publication state
Published
Issued date
03/2022
Peer-reviewed
Oui
Volume
91
Pages
105-108
Language
english
Notes
Publication types: Case Reports ; Journal Article
Publication Status: ppublish
Abstract
Kleine-Levin syndrome (KLS) is a rare and debilitating disorder presenting with periodic hypersomnolence, cognitive, psychiatric and behavioral disturbances. In the absence of biomarkers it can be difficult to diagnose. Rare LMOD3 variants in a family and in seven sporadic cases with KLS have been described. Here we report a patient and her family with an unclassified, familial, periodic central disorder of hypersomnolence (CDH) in whom the presence of a LMOD3 gene variant was assessed.
The female patient presented since early adulthood with recurrent episodes of hypersomnolence. Over more than 20 years of follow-up the diagnoses of idiopathic hypersomnia, KLS and hypersomnia associated with a psychiatric condition were made. The family history is positive for periodic hypersomnolence and psychiatric conditions. The patient, her symptomatic mother and her asymptomatic sister carried a Proline for Histidine substitution at codon 552 of the LMOD3-gene. This variant was previously reported in two sporadic KLS patients and its frequency in the general population is below 0.02%.
We report the association of periodic hypersomnia with a polymorphism of the LMOD3-gene in a patient with atypical KLS and a positive family history. Further research is needed to assess the pathological and predictive value of LMOD3 variants in KLS.
Keywords
Adult, Disorders of Excessive Somnolence/complications, Disorders of Excessive Somnolence/diagnosis, Disorders of Excessive Somnolence/genetics, Female, Humans, Idiopathic Hypersomnia, Kleine-Levin Syndrome, Polymorphism, Genetic, Biomarker, Central disorders of hypersomnolence, Genetic, Kleine-Levin syndrome, LMOD3, Periodic hypersomnia
Pubmed
Web of science
Open Access
Yes
Create date
07/04/2022 11:46
Last modification date
14/11/2023 7:19
Usage data