Cold Spring Harbor molecular case studies, volume 9, issue 4, pages mcs.a006293
De novo TRPM3 missense variant associated with neurodevelopmental delay and manifestations of cerebral palsy
Jagadish Chandrabose Sundaramurthi
1
,
Anita Bagley
2
,
Hannah Blau
3
,
Leigh C. Carmody
3
,
Amy L Crandall
4
,
Daniel Danis
3
,
Michael Gargano
3
,
Anxhela Gjyshi Gustafson
5
,
Ellen M. Raney
6
,
Mallory Shingle
2
,
Jon R. Davids
2
,
Peter W. Peter Robinson (2)
7
2
2 Shriners Hospital for Children, Northern California, Sacramento, CA 95817, USA
4
4 Shriners Hospital for Children, Portland, Oregon 97239, USA
5
5 Shriners Children's Genomics Institute, 3802 Spectrum Blvd, Tampa, FL 33612 USA
|
6
6 Shriners Children's, Portland, Oregon 97239
Publication type: Journal Article
Publication date: 2023-09-08
scimago Q2
SJR: 0.801
CiteScore: 3.2
Impact factor: 1.8
ISSN: 23732873, 23732865
PubMed ID:
37684057
General Medicine
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 addsTRPM3to 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).
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