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Article

Severe gastrointestinal symptoms caused by a novel DDX3X variant.

European journal of medical genetics - 1 Dec 2020

Okano Satomi, Miyamoto Akie, Makita Yoshio, Taketazu Genya, Kimura Kayano, Fukuda Ikue, Tanaka Hajime, Yanagi Kumiko, Kaname Tadashi

Abstract excerpt

Mutations in DDX3X have recently been identified as a common cause of intellectual disability and congenital anomalies. DDX3X (Xp11.4) encodes the DEAD box RNA helicase that plays an important role in gene regulation, apoptosis, and oncogenesis. Here, we report a case of 6-year-old Japanese girl with a novel variant (NM_001193416.3: c.1574A > G; p.(Tyr525Cys), who exhibited psychomotor retardation, severe...

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PMID: 32896648
DOI: 10.1016/j.ejmg.2020.104058

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