Titre
LMOD3 gene variant in familial periodic hypersomnolence.
Type
étude de cas
Institution
UNIL/CHUV/Unisanté + institutions partenaires
Périodique
Auteur(s)
Wenz, E.
Auteure/Auteur
Tafti, M.
Auteure/Auteur
Bassetti, CLA
Auteure/Auteur
Liens vers les personnes
Liens vers les unités
ISSN
1878-5506
Statut éditorial
Publié
Date de publication
2022-03
Volume
91
Première page
105
Dernière page/numéro d’article
108
Peer-reviewed
Oui
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article
Publication Status: ppublish
Publication Status: ppublish
Résumé
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.
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.
PID Serval
serval:BIB_A5E318D9A3DC
PMID
Open Access
Oui
Date de création
2022-04-07T10:46:45.429Z
Date de création dans IRIS
2025-05-20T23:13:55Z
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Nom
LMOD3 gene variant in familial periodic hypersomnolence.pdf
Version du manuscrit
published
Licence
https://creativecommons.org/licenses/by-nc-nd/4.0
Taille
368.29 KB
Format
Adobe PDF
PID Serval
serval:BIB_A5E318D9A3DC.P001
URN
urn:nbn:ch:serval-BIB_A5E318D9A3DC3
Somme de contrôle
(MD5):45beae1198fce1f1e1ac5aa90f67fcb7