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

Autor:	Sundaramurthi, Jagadish Chandrabose, Bagley, Anita M., Blau., Hannah, Carmody, Leigh, Crandall, Amy, Danis, Daniel, Gargano, Michael A., Gustafson, Anxhela Gjyshi, Raney, Ellen M., Shingle, Mallory, Davids, Jon R., Robinson, Peter N.
Předmět:	CEREBRAL palsy WHOLE genome sequencing BRAIN damage PROTEINS BIOMOLECULES
Zdroj:	Cold Spring Harbor Molecular Case Studies; Dec2023, Vol. 9 Issue 4, p1-10, 10p
Abstrakt:	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). [ABSTRACT FROM AUTHOR]
Databáze:	Complementary Index
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