Rhabdomyolysis and Metabolic Myopathy

Gene: TRPV1

Red List (low evidence)

PMID: 36454632 Katz et al 2023 describe two individuals from a consanguineous Palestinian Arab family with elevated heat pain and cold pain threshold with insensitivity to application of capsaicin to mouth and skin. No obvious associated health issues reported in this 11 year old and 1 year old individual secondary to this. Homozygous TPRV1 c.993C>G; p.N331K variant identified in both individuals (absent from gnomAD, highly conserved). Variant cell lines demonstrated loss of channel function with normal expression. In addition, homozygous PROKR1 gene variant identified in both affected individuals with potential for contribution to phenotype.

PMID: 36472910 - knockin mouse models with missense TRPV1 variant (K710N) also showed reduced capsaicin-induced calcium influx in dorsal root ganglion neurons.
Sources: Literature

Created: 2 Mar 2023, 3:47 a.m. | Last Modified: 2 Mar 2023, 3:47 a.m.

Panel Version: 1.698

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Channelopathy-associated congenital insensitivity to pain, autosomal recessive - MONDO:0009459

Publications

• PMID: 36454632
• PMID: 36472910

I don't know

Two unrelated cases reported with rhabdomyolysis and supporting in vitro functional assays for the 2 missense variants.
Sources: Literature

Created: 6 Oct 2020, 7:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Exertional heat stroke; rhabdomyolysis

Publications

• 32471784

Red List (low evidence)

Two individuals reported with rare/novel missense variants in this gene, some functional data.
Sources: Literature

Created: 21 Apr 2020, 4:16 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Susceptibility to malignant hyperthermia

Publications

• 29930394