De novo TRPM3 missense variant associated with neurodevelopmental delay and manifestations of cerebral palsy.

We identified a de novo heterozygous TRPM3 missense variant, p.(Asn1126Asp), in a patient with developmental delay and manifestations of cerebral palsy 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 destabilize the protein structure. Our report adds TRPM3 to the list of Mendelian disease-associated genes that can be associated with cerebral palsy and confirms the pathogenicity of the variant p.(Asn1126Asp).