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Article

Association of novel mutation in TRPV4 with familial nonsyndromic craniosynostosis with complete penetrance and variable expressivity.

Journal of neurosurgery. Pediatrics - 1 Jun 2023

Gayden Tenzin, Crevier-Sorbo Gabriel, Jawhar Wajih, Saint-Martin Christine, Eveleigh Robert, Gilardino Mirko S, Anastasio Natascia, Trakadis Yannis, Bassenden Angelia V, Berghuis Albert M, Jabado Nada, Dudley Roy W R

Abstract excerpt

OBJECTIVE: The aim of this study was to characterize a novel pathogenic variant in the transient receptor potential vanilloid 4 (TRPV4) gene, causing familial nonsyndromic craniosynostosis (CS) with complete penetrance and variable expressivity. METHODS: Whole-exome sequencing was performed on germline DNA of a family with nonsyndromic CS to a mean depth coverage of 300× per sample, with greater than 98% of the...

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Channelopathies
Child
Craniosynostoses
HEK293 Cells
Mutation

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TRPV Cation Channels

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PMID: 36905673
DOI: 10.3171/2023.1.PEDS22287

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