Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype

We identified 27 individuals with neurodevelopmental disorders (NDD) with rare variants in ZMYM3, an X chromosome gene encoding a transcriptional regulator. Some variants recurrently affect the same codons, and computational and experimental analyses suggest the variants impair ZMYM3 function. Our data strongly support ZMYM3 as an NDD gene.

Source: The American Journal of Human Genetics - December 30, 2022 Category: Genetics & Stem Cells Authors: Susan M. Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano, E. Christopher Partridge, Fatima E. Abidi, Ashlyn Anderson, Muhammad Ansar, Stylianos E. Antonarakis, Azadeh Azadi, Ruxandra Bachmann-Gagescu, Andrea Bartuli, Caroline Benech, Jennifer L. Berkowit Tags: Article Source Type: research