Fiche publication
Date publication
juin 2021
Journal
Clinical genetics
Auteurs
Membres identifiés du Cancéropôle Est :
Pr CALLIER Patrick
,
Pr FAIVRE Laurence
,
Pr KUENTZ Paul
Tous les auteurs :
Lévy J, Schell B, Nasser H, Rachid M, Ruaud L, Couque N, Callier P, Faivre L, Marle N, Engwerda A, van Ravenswaaij-Arts CMA, Plutino M, Karmous-Benailly H, Benech C, Redon S, Boute O, Boudry Labis E, Rama M, Kuentz P, Assoumani J, Van Maldergem L, Dupont C, Verloes A, Tabet AC
Lien Pubmed
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 9 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.
Mots clés
6q16.1 microdeletion, EPHA7, intellectual disability, microcephaly, neurodevelopmental disorder, speech and language development
Référence
Clin Genet. 2021 Jun 27;:
