1. De novo TRPM3 missense variant associated with neurodevelopmental delay and manifestations of cerebral palsy.
- Author
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Sundaramurthi, Jagadish, Bagley, Anita, Blau, Hannah, Carmody, Leigh, Crandall, Amy, Danis, Daniel, Gargano, Michael, Gustafson, Anxhela, Raney, Ellen, Shingle, Mallory, Robinson, Peter, and Davids, Jon
- Subjects
absent speech ,bilateral convulsive seizures ,bilateral talipes equinovarus ,broad forehead ,deeply set eye ,intellectual disability ,moderate ,language impairment ,moderate global developmental delay ,thoracic scoliosis ,torticollis ,Humans ,Cerebral Palsy ,Intellectual Disability ,Mutation ,Missense ,Phenotype ,Nervous System Malformations ,TRPM Cation Channels - Abstract
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).
- Published
- 2023