2021/06/27 by Jonathan Lévy, Bérénice Schell, Hala Nasser +25
Biochemistry, Genetics and Molecular Biology · Neuroscience · #Axon Guidance and Neuronal Signaling #Hereditary Neurological Disorders #Hippo pathway signaling and YAP/TAZ
paper · doi:10.1111/cge.14017
openalex publication_date 2021/06/27 · crossref created 2021/06/27 · crossref issued 2021/07/01 · crossref published 2021/07/01 · crossref published-online 2021/07/01 · openalex created_date 2021/07/05 · crossref published-print 2021/10/01 · crossref deposited 2023/08/29 · crossref indexed 2026/07/28 · openalex updated_date 2026/07/28
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.