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We identified in Moroccan deaf patients two mutations in PJVK and one mutation in MYO15A described for the first time in association with non-syndromic recessive hearing loss
Study describes a genetic form of noise-induced hearing loss , by showing that pejvakin deficiency in mice and DFNB59 patients leads to hypervulnerability to sound, due to a peroxisomal deficiency.
PCDH15 (zeige PCDH15 Proteine) or DFNB59 variants are associated with poor CI performance, yet children with PCDH15 (zeige PCDH15 Proteine) or DFNB59 variants might show clinical features indistinguishable from those of other typical pediatric cochlear implant recipients.
a c.406C>T (p.R136X) nonsense mutation in the DFNB59 gene hearing loss in an isolated Arab population
Missense mutation in PJVK causes progressive hearing loss.
OTOF and PJVK gene variants have a role in auditory neuropathy spectrum disorder in Chinese patients
failed to detect the presence either of mutations T54I and R183W in the exon 2 and exon 4 or any other deafness-associated mutations in the whole DFNB59 gene in this family
DFNB59, a newly identified gene on chromosome 2q31.1-q31.3 mutated in four families segregating autosomal recessive auditory neuropathy
We have identified a consanguineous family segregating autosomal recessive congenital progressive hearing loss (ARNSHL) and retinal degeneration with central vestibular dysfunction having homozygosity for a DFNB59 mutation.
data indicate that nonsense mutations in DFNB59 cause nonsyndromic hearing loss, but that mutations in DFNB59 are not a major cause of nonsyndromic hearing impairment in the Turkish and Dutch population
Results demonstrate that pejvakin is required to sustain outer hair cell activity and survival in a cell-autonomous manner and imply pejvakin defects in sensory hearing loss rather than auditory neuropathy spectrum disorder; show that pejvakin forms protein complexes with Rho effectors, including ROCK2 (zeige ROCK2 Proteine).
The pejvakin allele described here introduces a premature stop codon, causes outer hair cell defects, and leads to progressive hearing loss.
The protein encoded by this gene is a member of the gasdermin family, a family which is found only in vertebrates. The encoded protein is required for the proper function of auditory pathway neurons. Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal recessive type 59 (DFNB59).
deafness, autosomal recessive 59
, autosomal recessive deafness type 59 protein
, autosomal recessive deafness type 59 protein homolog