Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder.
Détails
Télécharger: 41525_2021_Article_255.pdf (776.47 [Ko])
Etat: Public
Version: Final published version
Licence: CC BY 4.0
Etat: Public
Version: Final published version
Licence: CC BY 4.0
ID Serval
serval:BIB_A441A84FD79F
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder.
Périodique
NPJ genomic medicine
ISSN
2056-7944 (Electronic)
ISSN-L
2056-7944
Statut éditorial
Publié
Date de publication
11/11/2021
Peer-reviewed
Oui
Volume
6
Numéro
1
Pages
94
Langue
anglais
Notes
Publication types: Journal Article
Publication Status: epublish
Publication Status: epublish
Résumé
Intellectual disability (ID) is a highly heterogeneous disorder with hundreds of associated genes. Despite progress in the identification of the genetic causes of ID following the introduction of high-throughput sequencing, about half of affected individuals still remain without a molecular diagnosis. Consanguineous families with affected individuals provide a unique opportunity to identify novel recessive causative genes. In this report, we describe a novel autosomal recessive neurodevelopmental disorder. We identified two consanguineous families with homozygous variants predicted to alter the splicing of ATP9A which encodes a transmembrane lipid flippase of the class II P4-ATPases. The three individuals homozygous for these putatively truncating variants presented with severe ID, motor and speech impairment, and behavioral anomalies. Consistent with a causative role of ATP9A in these patients, a previously described Atp9a-/- mouse model showed behavioral changes.
Pubmed
Web of science
Open Access
Oui
Création de la notice
26/11/2021 19:11
Dernière modification de la notice
14/02/2023 8:13