Document Type
Article
Publication Date
12-1-2023
Original Citation
Sundaramurthi J,
Bagley A,
Blau H,
Carmody L,
Crandall A,
Danis D,
Gargano M,
Gustafson A,
Raney E,
Shingle M,
Davids J,
Robinson P.
De novo Cold Spring Harb Mol Case Stud. 2023;9(4):a006293.
Keywords
JGM, Humans, Cerebral Palsy, Intellectual Disability, Mutation, Missense, Phenotype, Nervous System Malformations, TRPM Cation Channels
JAX Source
Cold Spring Harb Mol Case Stud. 2023;9(4):a006293.
ISSN
2373-2873
PMID
37684057
DOI
https://doi.org/10.1101/mcs.a006293
Grant
This study was supported by a grant from Shriners Hospitals for Children (Shriners-PR-21-03). Additional support was provided by the National Institutes of Health (NIH)/Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) (HD103805-02).
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 local- ized 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 path- ogenicity of the variant p.(Asn1126Asp).
Comments
© 2023 Sundaramurthi et al. 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.