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TRPV4 mutations in children with congenital distal spinal muscular atrophy

Content Provider	Springer Nature Link
Author	Fiorillo, Chiara Moro, Francesca Brisca, Giacomo Astrea, Guja Nesti, Claudia Bálint, Zoltán Olschewski, Andrea Meschini, Maria Chiara Guelly, Christian Auer Grumbach, Michaela Battini, Roberta Pedemonte, Marina Roma, Alessandro Menchise, Valeria Biancheri, Roberta Santorelli, Filippo M. Bru, Claudio
Copyright Year	2012
Abstract	Inherited disorders characterized by motor neuron loss and muscle weakness are genetically heterogeneous. The recent identification of mutations in the gene encoding transient receptor potential vanilloid 4 (TRPV4) in distal spinal muscular atrophy (dSMA) prompted us to screen for TRPV4 mutations in a small group of children with compatible phenotype. In a girl with dSMA and vocal cord paralysis, we detected a new variant (p.P97R) localized in the cytosolic N-terminus of the TRPV4 protein, upstream of the ankyrin-repeat domain, where the great majority of disease-associated mutations reside. In another child with congenital dSMA, in this case associated with bone abnormalities, we detected a previously reported mutation (p.R232C). Functional analysis of the novel p.P97R mutation in a heterologous system demonstrated a loss-of-function mechanism. Protein localization studies in muscle, skin, and cultured skin fibroblasts from both patients showed normal protein expression. No TRPV4 mutations were detected in four children with dSMA without bone or vocal cord involvement. Adding to the clinical and molecular heterogeneity of TRPV4-associated diseases, our results suggest that molecular testing of the TRPV4 gene is warranted in cases of congenital dSMA with bone abnormalities and vocal cord paralysis.
Starting Page	195
Ending Page	203
Page Count	9
File Format	PDF
ISSN	13646745
Journal	Neurogenetics
Volume Number	13
Issue Number	3
e-ISSN	13646753
Language	English
Publisher	Springer-Verlag
Publisher Date	2012-04-25
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Distal SMA TRPV4 Mutation Vocal cord Genotype–phenotype correlations Neurosciences Molecular Medicine Human Genetics
Content Type	Text
Resource Type	Article
Subject	Genetics Cellular and Molecular Neuroscience Genetics (clinical)

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