Jagadish Chandrabose Sundaramurthi1, Anita M. Bagley2, Hannah Blau1, Leigh Carmody1, Amy Crandall3, Daniel Danis1, Michael A. Gargano1, Anxhela Gjyshi Gustafson4, Ellen M. Raney3, Mallory Shingle2, Jon R. Davids2,5 and Peter N. Robinson1,6 1The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut 06032, USA; 2Shriners Children's Northern California, Sacramento, California 95817, USA; 3Shriners Children's, Portland, Oregon 97239, USA; 4Shriners Children's Genomics Institute, Tampa, Florida 33612, USA; 5Department of Orthopaedic Surgery, University of California Davis Health, Sacramento, California 95817, USA; 6Institute for Systems Genomics, University of Connecticut, Farmington, Connecticut 06032, USA Corresponding author: peter.robinsonjax.org

We identified a de novo heterozygous transient receptor potential cation channel subfamily M (melastatin) member 3 (TRPM3) missense variant, p.(Asn1126Asp), in a patient with developmental delay and manifestations of cerebral palsy (CP) using phenotype-driven prioritization analysis of whole-genome sequencing data with Exomiser. The variant is localized in the functionally important ion transport domain of the TRPM3 protein and predicted to impact the protein structure. Our report adds TRPM3 to the list of Mendelian disease–associated genes that can be associated with CP and provides further evidence for the pathogenicity of the variant p.(Asn1126Asp).

Received May 14, 2023. Accepted August 17, 2023.

This article is distributed under the terms of the Creative Commons Attribution License, which permits unrestricted reuse and redistribution provided that the original author and source are credited.