{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Taga A"],"funding":["National Institute of Neurological Disorders and Stroke","Deutsche Forschungsgemeinschaft","NINDS NIH HHS","American Academy of Neurology","Muscular Dystrophy Association"],"pagination":["375-391"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8935273"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["9(3)"],"pubmed_abstract":["Objective
Distinct dominant mutations in the calcium-permeable ion channel TRPV4 (transient receptor potential vanilloid 4) typically cause nonoverlapping diseases of either the neuromuscular or skeletal systems. However, accumulating evidence suggests that some patients develop mixed phenotypes that include elements of both neuromuscular and skeletal disease. We sought to define the genetic and clinical features of these patients.Methods
We report a 2-year-old with a novel R616G mutation in TRPV4 with a severe neuropathy phenotype and bilateral vocal cord paralysis. Interestingly, a different substitution at the same residue, R616Q, has been reported in families with isolated skeletal dysplasia. To gain insight into clinical features and potential genetic determinants of m"],"journal":["Annals of clinical and translational neurology"],"pubmed_title":["TRPV4 mutations causing mixed neuropathy and skeletal phenotypes result in severe gain of function."],"pmcid":["PMC8935273"],"funding_grant_id":["R35 NS122306","390713860","K08 NS102509","629305","Neuroscience Research Training Fellowship"],"pubmed_authors":["Goretzki B","McCray BA","Taga A","Ritter A","Harper A","Crawford TO","Peyton MA","Gallagher TQ","Hellmich UA","Sumner CJ"],"additional_accession":[]},"is_claimable":false,"name":"TRPV4 mutations causing mixed neuropathy and skeletal phenotypes result in severe gain of function.","description":"Objective
Distinct dominant mutations in the calcium-permeable ion channel TRPV4 (transient receptor potential vanilloid 4) typically cause nonoverlapping diseases of either the neuromuscular or skeletal systems. However, accumulating evidence suggests that some patients develop mixed phenotypes that include elements of both neuromuscular and skeletal disease. We sought to define the genetic and clinical features of these patients.Methods
We report a 2-year-old with a novel R616G mutation in TRPV4 with a severe neuropathy phenotype and bilateral vocal cord paralysis. Interestingly, a different substitution at the same residue, R616Q, has been reported in families with isolated skeletal dysplasia. To gain insight into clinical features and potential genetic determinants of m","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Mar","modification":"2025-04-04T07:45:27.055Z","creation":"2025-04-04T07:45:27.055Z"},"accession":"S-EPMC8935273","cross_references":{"pubmed":["35170874"],"doi":["10.1002/acn3.51523"]}}