Deafness_IsolatedAndComplex
Gene: TRPV4
A single case with a missense (Arg232Cys) reported with auditory neuropathy as a feature of the condition (PMID: 31393079). A knockout mouse model (Trpv4 -/-) demonstrated larger auditory brain response shifts to wildtype, and delayed-onset hearing loss (PMID: 15925108).
Hearing loss has been reported as a feature of the phenotype in multiple cases, but unknown if due to auditory neuropathy. Hearing loss was reported in 4/17 cases with childhood-onset motor neuropathy (PMID: 24789864). A single individual with hearing loss as a feature of the condition has been reported in two unrelated families segregating a missense variant (R186Q, R316C) with CMT2C (PMID: 22675077, 31468327). Another missense (R269H), segregated with hearing loss and SMA in 4 affected individuals in a family (PMID: 20460441).
Sources: LiteratureCreated: 13 Nov 2020, 7:46 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Auditory neuropathy spectrum disorder; Peripheral neuropathy; Hearing loss
Publications
Gene: trpv4 has been classified as Green List (High Evidence).
Publications for gene: TRPV4 were set to
Phenotypes for gene: TRPV4 were changed from to Auditory neuropathy spectrum disorder; Peripheral neuropathy; Hearing loss
Gene: trpv4 has been classified as Green List (High Evidence).
Gene: trpv4 has been classified as Amber List (Moderate Evidence).
gene: TRPV4 was added gene: TRPV4 was added to Deafness_IsolatedAndComplex. Sources: Literature Mode of inheritance for gene: TRPV4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted