EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder.
Chromosomes, Human, Pair 6
Comparative Genomic Hybridization
Female
Genetic Association Studies
/ methods
Genetic Predisposition to Disease
Haploinsufficiency
Humans
In Situ Hybridization, Fluorescence
Inheritance Patterns
Male
Mutation
Neurodevelopmental Disorders
/ diagnosis
Pedigree
Phenotype
Receptor, EphA7
/ genetics
Exome Sequencing
6q16.1 microdeletion
EPHA7
intellectual disability
microcephaly
neurodevelopmental disorder
speech and language development
Journal
Clinical genetics
ISSN: 1399-0004
Titre abrégé: Clin Genet
Pays: Denmark
ID NLM: 0253664
Informations de publication
Date de publication:
10 2021
10 2021
Historique:
revised:
21
06
2021
received:
27
11
2020
accepted:
23
06
2021
pubmed:
28
6
2021
medline:
1
2
2022
entrez:
27
6
2021
Statut:
ppublish
Résumé
Ephrin receptor and their ligands, the ephrins, are widely expressed in the developing brain. They are implicated in several developmental processes that are crucial for brain development. Deletions in genes encoding for members of the Eph/ephrin receptor family were reported in several neurodevelopmental disorders. The ephrin receptor A7 gene (EPHA7) encodes a member of ephrin receptor subfamily of the protein-tyrosine kinase family. EPHA7 plays a role in corticogenesis processes, determines brain size and shape, and is involved in development of the central nervous system. One patient only was reported so far with a de novo deletion encompassing EPHA7 in 6q16.1. We report 12 additional patients from nine unrelated pedigrees with similar deletions. The deletions were inherited in nine out of 12 patients, suggesting variable expressivity and incomplete penetrance. Four patients had tiny deletions involving only EPHA7, suggesting a critical role of EPHA7 in a neurodevelopmental disability phenotype. We provide further evidence for EPHA7 deletion as a risk factor for neurodevelopmental disorder and delineate its clinical phenotype.
Substances chimiques
Receptor, EphA7
EC 2.7.10.1
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
396-404Informations de copyright
© 2021 John Wiley & Sons A/S . Published by John Wiley & Sons Ltd.
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