Ahmed A, Wang M, Khan R, Shah AA, Guo H, Malik S, Xia K, Hu Z (2021) A splice-site variant (c.3289–1G>T) in OTOF underlies profound hearing loss in Pakistani kindred. BMC Med Genomics 14(1):2

Article  CAS  PubMed  PubMed Central  Google Scholar 

Alasti F, Sanati MH, Behrouzifard AH, Sadeghi A, de Brouwer AP, Kremer H, Smith RJ, Van Camp G (2008) A novel TECTA mutation confirms the recognizable phenotype among autosomal recessive hearing impairment families. Int J PediatrOtorhinolaryngol 72(2):249–255

Article  Google Scholar 

Bademci G, Foster J, Mahdieh N, Bonyadi M, Duman D, Cengiz FB, Menendez I, Diaz-Horta O, Shirkavand A, Zeinali S et al (2016a) Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort. Genet Med 18:364–371

Article  CAS  PubMed  Google Scholar 

Bademci G, Foster J, Mahdieh N, Bonyadi M, Duman D, Cengiz FB, Menendez I, Diaz-Horta O, Shirkavand A, Zeinali S et al (2016b) Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive non-syndromic deafness in a large multiethnic cohort. Genet Med 18:364–371

Article  CAS  PubMed  Google Scholar 

Chai Y, Chen D, Wang X, Wu H, Yang T (2014) A novel splice site mutation in DFNA5 causes late-onset progressive non-syndromic hearing loss in a Chinese family. Int J PediatrOtorhinolaryngol 78(8):1265–1268

Article  Google Scholar 

Chaleshtori MH, Simpson MA, Farrokhi E, Dolati M, Hoghooghi-Rad L, Amani Geshnigani S, Crosby AH (2007) Novel mutations in the pejvakin gene are associated with autosomal recessive non-syndromic hearing loss in Iranian families. Clin Genet 72:261–263

Article  Google Scholar 

Collin RW, Kalay E, Oostrik J, Caylan R, Wollnik B, Arslan S, den Hollander AI, Birinci Y, Lichtner P, Strom TM et al (2007a) Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment. Hum Mutat 28:718–723

Article  CAS  PubMed  Google Scholar 

Collin RWJ, Kalay E, Oostrik J, Caylan R, Wollnik B, Arslan S, den Hollander AI, Birinci Y, Lichtner P, Strom TM, Toraman B, Hoefsloot LH, Cremers CWRJ, Brunner HG, Cremers FPM, Karaguzel A, Kremer H (2007b) Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment. Hum Mutat 28:718–723

Article  CAS  PubMed  Google Scholar 

Collin RW, Kalay E, Oostrik J, Caylan R, Wollnik B, Arslan S, den Hollander AI, Birinci Y, Lichtner P, Strom TM et al (2007c) Involvement of DFNB59 mutations in autosomal recessive non-syndromic hearing impairment. Hum Mutat 28:718–723

Article  CAS  PubMed  Google Scholar 

Cooper TA (2005) Use of minigene systems to dissect alternative splicing elements. Methods 37(4):331

Article  CAS  PubMed  Google Scholar 

Defourny J, Aghaie A, Perfettini I, Avan P, Delmaghani S, Petit C (2019) Pejvakin-mediated pexophagy protects auditory hair cells against noise-induced damage. Proc Natl Acad Sci U S A 116(16):8010–8017

Article  CAS  PubMed  PubMed Central  Google Scholar 

Del Castillo I, Morín M, Domínguez-Ruiz M, Moreno-Pelayo MA (2022) Genetic etiology of non-syndromic hearing loss in Europe. Hum Genet 141(3–4):683–696

Article  PubMed  Google Scholar 

Delmaghani S, del Castillo FJ, Michel V, Leibovici M, Aghaie A, Ron U, Van Laer L, Ben-Tal N, Van Camp G, Weil D, Langa F, Lathrop M, Avan P, Petit C (2006) Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy. Nat Genet 38:770–778

Article  CAS  PubMed  Google Scholar 

Delmaghani S, Aghaie A, Bouyacoub Y, El Hachmi H, Bonnet C, Riahi Z, Chardenoux S, Perfettini I, Hardelin JP, Houmeida A, Herbomel P, Petit C (2016) Mutations in CDC14A, encoding a protein phosphatase involved in hair cell ciliogenesis, cause autosomal-recessive severe to profound deafness. Am J Hum Genet 98(6):1266–1270

Article  CAS  PubMed  PubMed Central  Google Scholar 

Domínguez-Ruiz M, Rodríguez-Ballesteros M, Gandía M, Gómez-Rosas E, Villamar M, Scimemi P, Mancini P, Rendtorff ND, Moreno-Pelayo MA, Tranebjaerg L et al (2022) Novel pathogenic variants in PJVK, the gene encoding pejvakin, in subjects with autosomal recessive non-syndromic hearing impairment and auditory neuropathy spectrum disorder. Genes 13:149

Article  PubMed  PubMed Central  Google Scholar 

Ebermann I, Walger M, Scholl HP, CharbelIssa P, Lüke C, Nürnberg G, Lang-Roth R, Becker C, Nürnberg P, Bolz HJ (2007a) Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction. Hum Mutat 28:571–577

Article  CAS  PubMed  Google Scholar 

Ebermann I, Walger M, Scholl HPN, CharbelIssa P, Lüke C, Nürnberg G, Lang-Roth R, Becker C, Nürnberg P, Bolz HJ (2007b) Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction. Hum Mutat 28:571–577

Article  CAS  PubMed  Google Scholar 

García-Rodríguez R, Hiller M, Jiménez-Gracia L, van der Pal Z, Balog J, Adamzek K, Aartsma-Rus A, Spitali P (2020) Premature termination codons in the DMD gene cause reduced local mRNA synthesis. Proc Natl Acad Sci U S A 117(28):16456–16464

Article  PubMed  PubMed Central  Google Scholar 

Khan A, Han S, Wang R, Ansar M, Ahmad W, Zhang X (2019) Sequence variants in genes causing nonsyndromic hearing loss in a Pakistani cohort. Mol Genet Genomic Med 7:e917

Article  PubMed  PubMed Central  Google Scholar 

Moctar EC, Riahi Z, El Hachmi H, Veten F, Meiloud G, Bonnet C, Abdelhak S, Errami M, Houmeida A (2016) Etiology and associated GJB2 mutations in Mauritanian children with non-syndromic hearing loss. Eur Arch Otorhinolaryngol 273(11):3693–3698

Article  PubMed  Google Scholar 

Morton NE (1991) Genetic epidemiology of hearing impairment. Ann N Y AcadSci 630:16–31 or (Stelma F, Bhutta MF. Non-syndromic hereditary sensorineural hearing loss: review of the genes involved. J Laryngol Otol 128(1):13–21)

Mujtaba G, Bukhari I, Fatima A, Naz S (2012) A p.C343S missense mutation in PJVK causes progressive hearing loss. Gene 504:98–101

Article  CAS  PubMed  PubMed Central  Google Scholar 

Richard EM, Santos-Cortez RLP, Faridi R, Rehman AU, Lee K, Shahzad M, Acharya A, Khan AA, Imtiaz A, Chakchouk I et al (2019a) Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss. Hum Mutat 40:53–72

Article  CAS  PubMed  Google Scholar 

Richard EM, Santos-Cortez RLP, Faridi R, Rehman AU, Lee K, Shahzad M, Acharya A, Khan AA, Imtiaz A, Chakchouk I et al (2019b) Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss. Hum Mutat 40:53–72

Article  CAS  PubMed  Google Scholar 

Roux I, Safieddine S, Nouvian R, M’hamedGrati, Simmler M-C, Bahloul A, Perfettini I, Le Gall M, Rostaing P, Hamard G, Triller A, Avan P, Moser T, Petit C (2006) Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse. Cell 127:277–289

Article  CAS  PubMed  Google Scholar 

Salame M, Bonnet C, Moctar ECM, Brahim SM, Dedy A, Vetah LA, Veten F, Hamed CT, Petit C, Houmeida A (2023) Identification a novel pathogenic LRTOMT mutation in Mauritanian families with nonsyndromic deafness. Eur Arch Otorhinolaryngol 280(9):4057–4063

Article  PubMed  Google Scholar 

Salime S, Charif M, Bousfiha A, Elrharchi S, Bakhchane A, Charoute H, Kabine M, Snoussi K, Lenaers G, Barakat A (2017) Homozygous mutations in PJVK and MYO15A genes associated with non-syndromic hearing loss in Moroccan families. Int J Pediatr Otorhinolaryngol 101:25–29

Article  PubMed  Google Scholar 

Schwander M, Sczaniecka A, Grillet N, Bailey JS, Avenarius M, Najmabadi H, Steffy BM, Federe GC, Lagler EA, Banan R et al (2007) A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function. J Neurosci 27:2163–2175

Article  CAS  PubMed  PubMed Central  Google Scholar 

Seiler M, Peng S, Agrawal AA, Palacino J, Teng T, Zhu P, Smith PG, Cancer Genome Atlas Research Network; Buonamici S, Yu L (2018) Somatic mutational landscape of splicing factor genes and their functional consequences across 33 cancer types. Cell Rep 23(1):282-296.e4

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sloan-Heggen CM, Babanejad M, Beheshtian M, Simpson AC, Booth KT, Ardalani F, Frees KL, Mohseni M, Mozafari R, Mehrjoo Z et al (2015) Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran. J Med Genet 52:823–829

Article