gopubmed logo
 
find other proteinsAll proteins
GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Aug 2016.

Deafness, autosomal recessive 59

DFNB59, Pejvakin, PJVK
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). [provided by RefSeq, Dec 2008] (from NCBI)
Top mentioned proteins: HAIR, otoferlin, mDia2, CAN, PGD2
Papers on DFNB59
Peroxisomes Get Loud: A Redox Antidote to Hearing Loss.
New
Impact
Hetz et al., Santiago, Chile. In Cell, Dec 2015
Pejvakin (PJVK), a protein originally identified in Persian families with sensorineural hearing loss, regulates peroxisomal dynamics and the antioxidant defense triggered by noise exposure in hair cells and auditory neurons of the inner ear.
Hypervulnerability to Sound Exposure through Impaired Adaptive Proliferation of Peroxisomes.
New
Impact
Petit et al., Paris, France. In Cell, Dec 2015
Pejvakin-deficient (Pjvk(-/-)) mice also exhibit variable auditory phenotypes.
Identifying Children With Poor Cochlear Implantation Outcomes Using Massively Parallel Sequencing.
New
Wu et al., Taipei, Taiwan. In Medicine (baltimore), Jul 2015
We identified genetic variants which are associated with poor CI outcomes in 7 (58%) of the 12 cases; 4 cases had bi-allelic PCDH15 pathogenic mutations and 3 cases were homozygous for the DFNB59 p.G292R variant.
Identification of a novel mutation of PJVK in the Chinese non-syndromic hearing loss population with low prevalence of the PJVK mutations.
New
Wang et al., Beijing, China. In Acta Otolaryngol, Mar 2015
CONCLUSION: To our knowledge, this is the first report of PJVK gene mutation in a Chinese non-syndromic sensorineural hearing loss (NSHL) family.
Distribution of pejvakin in human spiral ganglion: An immunohistochemical study.
Rask-Andersen et al., Uppsala, Sweden. In Cochlear Implants Int, 2013
DFNB59 gene encodes the protein pejvakin (PJVK) and its mutations cause autosomal recessive auditory neuropathy as well as other forms of sensorineural hearing loss.
Genetic analysis of auditory neuropathy spectrum disorder in the Korean population.
Kim et al., Taegu, South Korea. In Gene, 2013
To identify a causative gene causing ANSD in the Korean population, we conducted gene screening of the OTOF, DIAPH3, and PJVK genes in 19 unrelated Korean patients with ANSD.
High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel.
Basel-Vanagaite et al., Ulm, Germany. In Clin Genet, 2012
Non-syndromic hearing impairment caused by mutations of DFNB59 (encoding pejvakin) has been described in a couple of families in which affected individuals presented with either auditory neuropathy or hearing loss of cochlear origin.
A p.C343S missense mutation in PJVK causes progressive hearing loss.
GeneRIF
Naz et al., Lahore, Pakistan. In Gene, 2012
Missense mutation in PJVK causes progressive hearing loss.
[Mutational analysis of candidate genes in a Chinese pedigree with dominantly inherited auditory neuropathy].
Xing et al., Nanjing, China. In Lin Chuang Er Bi Yan Hou Ke Za Zhi, 2012
OBJECTIVE: Three genes including the OTOF, the DFNB59 and the DIAPH3 have been implicated previously in human non-syndromic auditory neuropathy.
Variants of OTOF and PJVK genes in Chinese patients with auditory neuropathy spectrum disorder.
GeneRIF
Qiu et al., Xi'an, China. In Plos One, 2010
OTOF and PJVK gene variants have a role in auditory neuropathy spectrum disorder in Chinese patients
Increased activity of Diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila.
Lesperance et al., Ann Arbor, United States. In Proc Natl Acad Sci U S A, 2010
To date, only two genes, the otoferlin gene OTOF and the pejvakin gene PJVK, are known to underlie nonsyndromic auditory neuropathy.
Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families.
Kanaan et al., Palestine, United States. In Eur J Hum Genet, 2010
Novel alleles included missense, nonsense, and splice site mutations of CDH23, MYO7A, MYO15A, OTOF, PJVK, Pendrin/SLC26A4, TECTA, TMHS, and TMPRSS3, and a large genomic deletion of Otoancorin (OTOA).
Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans.
Müller et al., Los Angeles, United States. In Am J Hum Genet, 2009
LOXHD1, MYO3a, and PJVK are the only human genes to date linked to progressive ARNSHL.
[Sequence analysis of DFNB59 gene in a Chinese family with dominantly inherited auditory neuropathy].
GeneRIF
Bu et al., Nanjing, China. In Lin Chuang Er Bi Yan Hou Ke Za Zhi, 2008
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
Novel mutations in the pejvakin gene are associated with autosomal recessive non-syndromic hearing loss in Iranian families.
GeneRIF
Crosby et al., In Clin Genet, 2007
Mutations in DFNB59 are associated with autosomal recessive non-syndromic hearing loss in about 6.7% of GJB2-negative families.
Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment.
GeneRIF
Kremer et al., Nijmegen, Netherlands. In Hum Mutat, 2007
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
Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy.
Impact
GeneRIF
Petit et al., Paris, France. In Nat Genet, 2006
DFNB59, a newly identified gene on chromosome 2q31.1-q31.3 mutated in four families segregating autosomal recessive auditory neuropathy
share on facebooktweetadd +1mail to friends