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

• Published in: Genes Vol. 13; no. 1; p. 149
• Main Authors: Domínguez-Ruiz, María, Rodríguez-Ballesteros, Montserrat, Gandía, Marta, Gómez-Rosas, Elena, Villamar, Manuela, Scimemi, Pietro, Mancini, Patrizia, Rendtorff, Nanna D., Moreno-Pelayo, Miguel A., Tranebjaerg, Lisbeth, Medà, Carme, Santarelli, Rosamaria, del Castillo, Ignacio
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 15.01.2022; MDPI
• Subjects: Adolescent; Child; Child, Preschool; Cochlea; Exons; Female; Genes; Genetic Association Studies; Genomes; genotype-phenotype correlation; Genotypes; Hearing loss; Hearing Loss - complications; Hearing Loss - genetics; Hearing Loss - pathology; Hearing Loss, Central - complications; Hearing Loss, Central - genetics; Hearing Loss, Central - pathology; Humans; Infant; Male; Medical screening; Mutation; Nerve Tissue Proteins - genetics; Neuropathy; Parents & parenting; Pedigree; peripheral nervous system diseases; Phenotypes; Siblings; Denmark; Italy; United States > US; Spain; DFNB59; PJVK; non-syndromic hearing impairment; auditory neuropathy spectrum disorder; pejvakin; genetic epidemiology

Pathogenic variants in the PJVK 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 of reported cases an...