MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss

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dc.authoridAbad, Clemer/0000-0002-9434-1337
dc.authoridMaroofian, Reza/0000-0001-6763-1542
dc.authoridRad, Abolfazl/0000-0001-8627-8828
dc.authoridBademci, Guney/0000-0002-4052-8833
dc.authoridTekin, Mustafa/0000-0002-3525-7960
dc.authoridVona, Barbara/0000-0002-6719-3447
dc.authoridDuman, Duygu/0000-0001-7583-0349
dc.contributor.authorBademci, Guney
dc.contributor.authorAbad, Clemer
dc.contributor.authorIncesulu, Armagan
dc.contributor.authorRad, Abolfazl
dc.contributor.authorAlper, Ozgul
dc.contributor.authorKolb, Susanne M.
dc.contributor.authorCengiz, Filiz B.
dc.date.accessioned2025-01-27T20:14:14Z
dc.date.available2025-01-27T20:14:14Z
dc.date.issued2018
dc.departmentÇanakkale Onsekiz Mart Üniversitesi
dc.description.abstractWhile recent studies have revealed a substantial portion of the genes underlying human hearing loss, the extensive genetic landscape has not been completely explored. Here, we report a loss-of-function variant (c.72delA) in MPZL2 in three unrelated multiplex families from Turkey and Iran with autosomal recessive nonsyndromic hearing loss. The variant co-segregates with moderate sensorineural hearing loss in all three families. We show a shared haplotype flanking the variant in our families implicating a single founder. While rare in other populations, the allele frequency of the variant is 0.004 in Ashkenazi Jews, suggesting that it may be an important cause of moderate hearing loss in that population. We show that Mpzl2 is expressed in mouse inner ear, and the protein localizes in the auditory inner and outer hair cells, with an asymmetric subcellular localization. We thus present MPZL2 as a novel gene associated with sensorineural hearing loss.
dc.description.sponsorshipNational Institutes of Health/National Institute on Deafness and Other Communication Disorders [R01DC09645, R01DC012836]; DNA/Tissue Bank of Akdeniz University, Antalya, Turkey
dc.description.sponsorshipWe are grateful to the families participating in this study. This study was supported by R01DC09645 and R01DC012836 from the National Institutes of Health/National Institute on Deafness and Other Communication Disorders to MT and DNA/Tissue Bank of Akdeniz University, Antalya, Turkey.
dc.identifier.doi10.1007/s00439-018-1901-4
dc.identifier.endpage486
dc.identifier.issn0340-6717
dc.identifier.issn1432-1203
dc.identifier.issue6-7
dc.identifier.pmid29982980
dc.identifier.scopus2-s2.0-85049552575
dc.identifier.scopusqualityQ1
dc.identifier.startpage479
dc.identifier.urihttps://doi.org/10.1007/s00439-018-1901-4
dc.identifier.urihttps://hdl.handle.net/20.500.12428/21006
dc.identifier.volume137
dc.identifier.wosWOS:000439463700006
dc.identifier.wosqualityQ1
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherSpringer
dc.relation.ispartofHuman Genetics
dc.relation.publicationcategoryinfo:eu-repo/semantics/openAccess
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_WoS_20250125
dc.subjectAntigen Eva
dc.subjectMutations
dc.subjectOtogelin
dc.subjectSequence
dc.subjectProtein
dc.titleMPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss
dc.typeArticle

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