Pathophysiological Heterogeneity of the BBSOA Neurodevelopmental Syndrome.

ABSTRACT: The formation and maturation of the human brain is regulated by highly coordinated developmental events, such as neural cell proliferation, migration and differentiation. Any impairment of these interconnected multi-factorial processes can affect brain structure and function and lead to distinctive neurodevelopmental disorders. Here, we review the pathophysiology of the Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS; OMIM 615722; ORPHA 401777), a recently described monogenic neurodevelopmental syndrome caused by the haploinsufficiency of NR2F1 gene, a key transcriptional regulator of brain development. Although intellectual disability, developmental delay and visual impairment are arguably the most common symptoms affecting BBSOAS patients, multiple additional features are oft

SUBMITTER: Bertacchi M 

PROVIDER: S-EPMC9024734 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature