TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions

Applying a gene-first approach and worldwide gene-matching, we identify eight individuals with variants in TCEAL1, a candidate gene for the early-onset neurological disease trait (EONDT) in females with Xq22.2 deletion. The neurodevelopmental disorder observed overlaps that described in Xq22.2 deletion females, implicating TCEAL1 as the driver gene.

Source: The American Journal of Human Genetics - November 10, 2022 Category: Genetics & Stem Cells Authors: Hadia Hijazi, Linda M. Reis, Davut Pehlivan, Jonathan A. Bernstein, Michael Muriello, Erin Syverson, Devon Bonner, Mehrdad A. Estiar, Ziv Gan-Or, Guy A. Rouleau, Ekaterina Lyulcheva, Lynn Greenhalgh, Marine Tessarech, Estelle Colin, Agn ès Guichet, Domin Tags: Report Source Type: research