MYT1L variant inherited by a mosaic father in a case of severe developmental and epileptic encephalopathy.
MYT1L
epileptic encephalopathy
exome sequencing
mosaicism
refractory seizures
Journal
Epileptic disorders : international epilepsy journal with videotape
ISSN: 1950-6945
Titre abrégé: Epileptic Disord
Pays: United States
ID NLM: 100891853
Informations de publication
Date de publication:
30 Jul 2023
30 Jul 2023
Historique:
revised:
25
07
2023
received:
19
04
2023
accepted:
26
07
2023
pubmed:
31
7
2023
medline:
31
7
2023
entrez:
31
7
2023
Statut:
aheadofprint
Résumé
The MYT1L gene plays a critical role in brain development, promoting the differentiation and proliferation of cells, important for the formation of brain connections. MYT1L is also involved in regulating the development of the hypothalamus, which is a crucial actor in weight regulation. Genetic variants in the MYT1L are associated with a range of developmental disorders, including intellectual disability, autism spectrum disorder, facial dysmorphisms, and epilepsy. The specific role of MYT1L in epilepsy remains elusive and no patients with developmental and epileptic encephalopathy (DEE) have been described so far. In this study, we report a patient with DEE presenting with severe refractory epilepsy, obesity, and behavioral abnormalities. Exome sequencing led to the identification of the heterozygous variant NM_001303052.2: c.1717G>A, p.(Gly573Arg) (chr2-1910340-C-T; GRCh38.p14) in the MYT1L gene. This variant was found to be inherited by the father, who was a mosaic and did not suffer from any neuropsychiatric disorders. Our observations expand the molecular and phenotype spectrum of MYT1L-related disorders, suggesting that affected individuals may present with severe epileptic phenotype leading to neurocognitive deterioration. Furthermore, we show that mosaic parents may not display the disease phenotype, with relevant implications for genetic counseling.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2023 The Authors. Epileptic Disorders published by Wiley Periodicals LLC on behalf of International League Against Epilepsy.
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