ARID1A gene variants and fetal hydrocephalus: First evidence of mRNA decay escape

Tanaka, Yoshimi; Yamada, Mamiko; Miya, Fuyuki; Otani, Toshimitsu; Kasuga, Yoshifumi; Suzuki, Hisato; Inagaki, Noboru; M. White, Susan; Tanaka, Mamoru; Kosaki, Kenjiro

doi:10.1016/j.ejmg.2025.105048

Public

ARID1A gene variants and fetal hydrocephalus: First evidence of mRNA decay escape

Published in European Journal of Medical Genetics • Sep 17, 2025

Authors:

Yoshimi Tanaka

Mamiko Yamada

Fuyuki Miya

Abstract

Germline variants in ARID1A have been associated with the so-called BAFopathies, including Coffin-Siris syndrome, which is characterized by hypertrichosis, short fifth finger, thin upper lip, and thick lower lip, is associated with a unique episignature. Hydrocephalus has not been considered part of...

Subject

Frameshift mutation

Biology

Genetics

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