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Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorder

Kazuyuki Komatsu Atsushi Sugie Yohei Nitta Jiro Osaka Ummul Halilunnisa Mansoor Hussain Mitsuru Kubota Nobuyuki Shimozawa M. Carter Petra J G Zwijnenburg Q. Waisfisz F. Boschann Denise Horn M. Nakashima H. Saitsu
Jun 2026 · European Journal of Human Genetics · Vol 34, pp. 1047 - 1058 · 1 citation · 53 references
Medicine

TL;DR

Overall, EIF1AX is a novel gene for which loss-of-function variants appear to produce syndromic neurodevelopmental disorders in males, and its pathogenicity was evaluated using a molecular dynamic simulation and transgenic Drosophila models.

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