A previously identified missense mutation in STYXL1 is likely benign.
Intellectual disability
STYXL1
Whole exome sequencing
Journal
European journal of medical genetics
ISSN: 1878-0849
Titre abrégé: Eur J Med Genet
Pays: Netherlands
ID NLM: 101247089
Informations de publication
Date de publication:
Nov 2019
Nov 2019
Historique:
received:
12
09
2018
revised:
15
11
2018
accepted:
22
11
2018
pubmed:
26
11
2018
medline:
7
2
2020
entrez:
26
11
2018
Statut:
ppublish
Résumé
Based on a homozygous missense variant p.Pro311Ala found in three siblings of a consanguineous family, mutations in the STYXL1 gene were suggested to cause moderate intellectual disability, epilepsy and complex behavioural abnormalities. We have detected this variant via whole exome sequencing in a homozygous state in two families. Segregation analyses in our families and thorough validation in international genetic databases provides evidence that this variant is most likely benign. This is important information for genetic counselling. The role of STYXL1 variants in human disease needs to be established.
Identifiants
pubmed: 30472486
pii: S1769-7212(18)30680-3
doi: 10.1016/j.ejmg.2018.11.016
pii:
doi:
Substances chimiques
Apoptosis Regulatory Proteins
0
STYXL1 protein, human
0
Types de publication
Letter
Langues
eng
Sous-ensembles de citation
IM
Pagination
103582Informations de copyright
Copyright © 2018 Elsevier Masson SAS. All rights reserved.