Hereditary motor and sensory neuropathy, type IIC (HMSN2C), also known as Charcot-Marie-Tooth disease type 2C (CMT2C), is one of several neuromuscular disorders associated with the human TRPV4 gene. See the human disease model report for neuromuscular diseases, TRPV4-related (FBhh0001240) for information on experimental results using Drosophila models of this and related diseases.
UAS constructs of the human Hsap\TRPV4 gene have been introduced into flies, including wild-type and variants implicated in disease. Variant(s) implicated in human disease tested (as transgenic human gene, TRPV4): R269C and R232C variant forms of the human gene have been introduced into flies. These variants are implicated in both HMSN2C and HMN8; the R269C variant is also implicated in SPSMA.
[updated Aug. 2020 by FlyBase; FBrf0222196]
Charcot-Marie-Tooth disease (CMT) constitutes a clinically and genetically heterogeneous group of hereditary motor and sensory peripheral neuropathies. CMT is divided into several major types: Type 1 is characterized by demyelination and by a significantly slowed motor median nerve conduction velocity (NCV). Type 2 is characterized by axonal abnormalities and a normal or slightly reduced NCV. "Intermediate" types describe CMT families with nerve conduction velocities, in different affected individuals, that overlap the division between Type 1 and Type 2. Additional types are defined on the basis inheritance patterns. [from MIM:609260 and MIM:606482; 2015.12.15]
Symptoms typically include progressive distal muscle weakness and atrophy, often associated with mild to moderate sensory loss, depressed tendon reflexes, and high-arched feet. [from Gene Reviews, http://www.ncbi.nlm.nih.gov/books/NBK1358 2015.12.15]
[HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC; HMSN2C](https://omim.org/entry/606071)
[TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 4; TRPV4](https://omim.org/entry/605427)
HMSN2C, also known as Charcot-Marie-Tooth disease type 2C (CMT2C), is an autosomal dominant form of peripheral axonal neuropathy with diaphragmatic and vocal cord paresis. Age at onset and severity is variable (Dyck et al., 1994, pubmed:8179305; Klein et al., 2011, pubmed:21288981) [from MIM:606071; 2020.08.16]
Sensory neuropathy type IIC (HMSN2C) is caused by heterozygous mutation in the TRPV4 gene. [from MIM:606071; 2020.08.16]
Many to many: multiple related genes in both species.
