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Clinical and molecular characteristics of a novel rare de novo variant in PPP2CA in a patient with a developmental disorder, autism, and epilepsy

PP2A-related (neuro) developmental disorders are a family of genetic diseases caused by a heterozygous alteration in one of several genes encoding a subunit of type 2A protein phosphatases. Reported affected genes, so far, are PPP2R5D, encoding the PP2A regulatory B56δ subunit; PPP2R1A, encoding the...

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Principais autores: Iris Verbinnen, Sara S. Procknow, Lisa Lenaerts, Sara Reynhout, Aujan Mehregan, Chris Ulens, Veerle Janssens, Katherine A. King
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2022-11-01
coleção:Frontiers in Cell and Developmental Biology
Assuntos:
PP2A-related neurodevelopmental disorders
de novo mutation
PPP2CA
epilepsy
autism (ASD)
developmental delay
Acesso em linha:https://www.frontiersin.org/articles/10.3389/fcell.2022.1059938/full
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