Article
De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy.
Journal of medical genetics - 1 Mar 2022
Ragamin Aviel, Gomes Carolina C, Bindels-de Heus Karen, Sandoval Renata, Bassenden Angelia V, Dib Luciano, Kok Fernando, Alves Julieta, Mathijssen Irene, Medici-Van den Herik Evita, Eveleigh Robert, Gayden Tenzin, Pullens Bas, Berghuis Albert, van Slegtenhorst Marjon, Wilke Martina, Jabado Nada, Mancini Grazia Maria Simonetta, Gomez Ricardo Santiago
Abstract excerpt
BACKGROUND: Pathogenic germline variants in Transient Receptor Potential Vanilloid 4 Cation Channel (TRPV4) lead to channelopathies, which are phenotypically diverse and heterogeneous disorders grossly divided in neuromuscular disorders and skeletal dysplasia. We recently reported in sporadic giant cell lesions of the jaws (GCLJs) novel, somatic, heterozygous, gain-of-function mutations in TRPV4, at Met713....
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