Novel Pathogenic Variants in <i>PJVK</i>, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder

Novel Pathogenic Variants in <i>PJVK</i>, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder

Pathogenic variants in the <i>PJVK</i> gene cause the DFNB59 type of autosomal recessive non-syndromic hearing impairment (AR-NSHI). Phenotypes are not homogeneous, as a few subjects show auditory neuropathy spectrum disorder (ANSD), while others show cochlear hearing loss. The numbers o...

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Bibliographic Details
Main Authors: María Domínguez-Ruiz, Montserrat Rodríguez-Ballesteros, Marta Gandía, Elena Gómez-Rosas, Manuela Villamar, Pietro Scimemi, Patrizia Mancini, Nanna D. Rendtorff, Miguel A. Moreno-Pelayo, Lisbeth Tranebjaerg, Carme Medà, Rosamaria Santarelli, Ignacio del Castillo
Format: Article
Language:English
Published: MDPI AG 2022-01-01
Series:Genes
Subjects:
non-syndromic hearing impairment
auditory neuropathy spectrum disorder
DFNB59
<i>PJVK</i>
pejvakin
genetic epidemiology
Online Access:https://www.mdpi.com/2073-4425/13/1/149

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