Author

H. Saitsu

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Jul 2026

Recurrent RNU4-2 n.64_65insT variant in ReNU syndrome identified in exome-negative cases.

The findings underscore RNU4-2 as a major cause of NDDs in ES-negative cases and further delineate the phenotypic spectrum of ReNU syndrome.

Takuya Hiraide, Kenji Shimizu, Taiju Hayashi et al. · Brain & development (Tokyo.... · 0 citations

Open access Jun 2026

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

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.

Kazuyuki Komatsu, Atsushi Sugie, Yohei Nitta et al. · European Journal of Human Ge... · 1 citation