Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy

Delmaghani, Sedigheh; Castillo, Francisco J. del; Michel, Vincent; Leibovici, Michel; Aghaie, Asadollah; Ron, Uri; Laer, Lut Van; Ben‐Tal, Nir; Camp, Guy Van; Weil, Dominique; Langa, Francina; Lathrop, Mark; Avan, Paul; Petit, Christine

doi:10.1038/ng1829

Cited by 267 publications

(267 citation statements)

References 35 publications

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“…Recordings using both intracellular and extracellular methods in animal models of auditory nerve disorders due to specific gene mutations (Delmaghani et al, 2006;Moser et al, 2006) would identify the physiological consequences of disorders of receptors, synapses, auditory nerve terminals, and auditory nerve fibers. These animal and human studies are likely to lead to the recognition of specific pre-and post-synaptic mechanisms for the clinical disorder known as auditory neuropathy (AN).…”

Section: Discussionmentioning

confidence: 99%

“…The involvement of optic nerves as well as the post-lingual onset is inconsistent with mutations of both otoferlin (Rodriguez-Ballesteros et al, 2003) and pejvakin genes (Delmaghani et al, 2006). Mutations affecting mitochondrial functions of both optic and auditory nerves are candidate etiologies in these patients (Ceranić and Luxon, 2004;Amati-Bonneau et al, 2005).…”

Section: Adaptation Of Ecochg Potentials In Anmentioning

confidence: 99%

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Neural and receptor cochlear potentials obtained by transtympanic electrocochleography in auditory neuropathy

Santarelli

Starr

Michalewski

et al. 2008

Clinical Neurophysiology

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Objective: Transtympanic electrocochleography (ECochG) was recorded bilaterally in children and adults with auditory neuropathy (AN) to evaluate receptor and neural generators. Methods: Test stimuli were clicks from 60 to 120 dB p.e. SPL. Measures obtained from eight AN subjects were compared to 16 normally hearing children. Results: Receptor cochlear microphonics (CMs) in AN were of normal or enhanced amplitude. Neural compound action potentials (CAPs) and receptor summating potentials (SPs) were identified in five AN ears. ECochG potentials in those ears without CAPs were of negative polarity and of normal or prolonged duration. We used adaptation to rapid stimulus rates to distinguish whether the generators of the negative potentials were of neural or receptor origin. Adaptation in controls resulted in amplitude reduction of CAP twice that of SP without affecting the duration of ECochG potentials. In seven AN ears without CAP and with prolonged negative potential, adaptation was accompanied by reduction of both amplitude and duration of the negative potential to control values consistent with neural generation. In four ears without CAP and with normal duration potentials, adaptation was without effect consistent with receptor generation. In five AN ears with CAP, there was reduction in amplitude of CAP and SP as controls but with a significant decrease in response duration. Conclusions: Three patterns of cochlear potentials were identified in AN: (1) presence of receptor SP without CAP consistent with presynaptic disorder of inner hair cells; (2) presence of both SP and CAP consistent with post-synaptic disorder of proximal auditory nerve; (3) presence of prolonged neural potentials without a CAP consistent with post-synaptic disorder of nerve terminals. Significance: Cochlear potential measures may identify pre-and post-synaptic disorders of inner hair cells and auditory nerves in AN.

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Section: Discussionmentioning

confidence: 99%

Section: Adaptation Of Ecochg Potentials In Anmentioning

confidence: 99%

Neural and receptor cochlear potentials obtained by transtympanic electrocochleography in auditory neuropathy

Santarelli

Starr

Michalewski

et al. 2008

Clinical Neurophysiology

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“…PJVK mutations were clarified as the cause of sensorineural HL for the first time in Iranian families. 66 So far, four mutations (T54I, R183W, 726delT and c.988delG) in PJVK gene have been found in Iran (Figure 2b). The frequency of PJVK mutations has been reported to be 4 of 60 chromosomes in Iran.…”

Section: Genetic Causes Of Nshl In Iran N Mahdieh Et Almentioning

confidence: 99%

“…66 Pejvakin possibly has an important role in the cell signaling of hair cells and sensory neurons. 67,68 The 352-amino-acid pejvakin protein is translated from a 5 kb cDNA.…”

Section: Genetic Causes Of Nshl In Iran N Mahdieh Et Almentioning

confidence: 99%

Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations

et al. 2010

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Hearing loss (HL) is the most prevalent sensory defect affecting 1 in 500 neonates. Genetic factors are involved in half of the cases. The extreme heterogeneity of HL makes it difficult to analyze and determine the accurate genetic causes of the impairment. Up to now, 10 genes, namely, GJB2, GJB6, SLC26A4, TECTA, PJVK, Col11A2, Myo15A, TMC1, RDX and microRNA (miR-183), have been studied in an Iranian population. The prevalence of HL in Iran was estimated to be 2-3 times higher than that in other parts of the world. Here, the most common bases of congenital nonsyndromic hearing loss (NSHL) are discussed. We reviewed GJB2, GJB6 (large deletion), TECTA, SLC26A4 and PEJVK mutations, and studied their frequencies and distributions in different ethnic groups in 1934, 500, 121, 80 and 34 unrelated families throughout Iran, respectively. GJB2 mutation was the most common factor causing NSHL, with a mean frequency of 18.17% in the Iranian population. The importance of Iran's geographical location in the migration pathway from west to east through the silk route was also highlighted. SLC26A4 and TECTA mutations were the second and third main reasons of HL and accounted for up to 10 and 4% of prelingual HL in Iran, respectively. Mutations in GJB2, SLC26, TECTA and PJVK genes have an important role in HL in Iran and a screening test should be generated for better intervention and diagnosis programs.

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“…For Tmc1, the primers amplified a region (corresponding to human exons 16 to 17) that has been implicated in deafness in mice (Kurima et al, 2002). For Pjvk, the primers amplified a region (corresponding to human exons 5 to 6) that contains the functionally important putative nuclear localisation signal and zinc-binding motif (Delmaghani et al, 2006). This region also contains a premature stop codon in mutant mice (Schwander et al, 2007).…”

Section: Dna Isolation Primer Design Amplification and Sequencingmentioning

confidence: 99%

Parallel signatures of sequence evolution among hearing genes in echolocating mammals: an emerging model of genetic convergence

et al. 2011

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Recent findings of sequence convergence in the Prestin gene among some bats and cetaceans suggest that parallel adaptations for high-frequency hearing have taken place during the evolution of echolocation. To determine if this gene is an exception, or instead similar processes have occurred in other hearing genes, we have examined Tmc1 and Pjvk, both of which are associated with non-syndromic hearing loss in mammals. These genes were amplified and sequenced from a number of mammalian species, including echolocating and non-echolocating bats and whales, and were analysed together with published sequences. Sections of both genes showed phylogenetic signals that conflicted with accepted species relationships, with coding regions uniting laryngeal echolocating bats in a monophyletic clade. Bayesian estimates of posterior probabilities of convergent and divergent substitutions provided more direct evidence of sequence convergence between the two groups of laryngeal echolocating bats as well as between echolocating bats and dolphins. We found strong evidence of positive selection acting on some echolocating bat species and echolocating cetaceans, contrasting with purifying selection on non-echolocating bats. Signatures of sequence convergence and molecular adaptation in two additional hearing genes suggest that the acquisition of high-frequency hearing has involved multiple loci.

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Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy

Cited by 267 publications

References 35 publications

Neural and receptor cochlear potentials obtained by transtympanic electrocochleography in auditory neuropathy

Neural and receptor cochlear potentials obtained by transtympanic electrocochleography in auditory neuropathy

Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations

Parallel signatures of sequence evolution among hearing genes in echolocating mammals: an emerging model of genetic convergence

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