{"title":"A Case Report of Auditory Neuropathy Due to TWNK Gene Mutations.","authors":"Gaziz Sharifovich Tufatulin, Ekaterina Sergeevna Garbaruk, Maria Rafaelievna Lalayants, Tatiana Gennadievna Markova, Elizaveta Konstantinovna Mefodovskaya, Inna Vasilievna Koroleva, Oxana Petrovna Ryzhkova, Maria Dmitrievna Orlova, Olga Leonidovna Shatokhina, Serafima Borisovna Sugarova, Sergey Vladimirovich Levin","doi":"10.5152/iao.2025.241648","DOIUrl":null,"url":null,"abstract":"<p><p>Mutations in the TWNK gene were described in patients with Perrault syndrome—an autosomal-recessive disease that includes hearing loss, central auditory and speech disorders, cerebellar ataxia, motor and sensory neuropathy, and ovarian dysfunction. Only around 100 cases of Perrault\nsyndrome have been described to date. Genetically, it caused by biallelic pathologic variants in 1 of 6 genes. A literature review and a case study\nof Perrault syndrome are given in the article. Two mutations in the TWNK gene were detected in a 13-year-old girl with the phenotype of auditory\nneuropathy spectrum disorder (ANSD). The nucleotide variant c.1523A>G (p.(Tyr508Cys), NM_021830.5) was previously described; another variant c.1199G>T (p.(Arg400Leu) NM_021830.5) is a new one with an unknown population frequency. The main value of this case is the combination\nof mutations in the TWNK gene with the phenotype of ANSD, as well as the manifestation of the disease with hearing impairment but without\nneurological symptoms, unlike what was described in the literature. Specifically, in this case, progression of hearing disorders, ineffective amplification, and limited CI effect were noted. Genetic testing results suggested endocrine system testing, which revealed ovarian dysfunction at a\npreclinical stage; cerebellar ataxia was also diagnosed. The patient requires further monitoring by a multidisciplinary team.</p>","PeriodicalId":94238,"journal":{"name":"The journal of international advanced otology","volume":"21 1","pages":"1-6"},"PeriodicalIF":0.0000,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11843263/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"The journal of international advanced otology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5152/iao.2025.241648","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
Mutations in the TWNK gene were described in patients with Perrault syndrome—an autosomal-recessive disease that includes hearing loss, central auditory and speech disorders, cerebellar ataxia, motor and sensory neuropathy, and ovarian dysfunction. Only around 100 cases of Perrault
syndrome have been described to date. Genetically, it caused by biallelic pathologic variants in 1 of 6 genes. A literature review and a case study
of Perrault syndrome are given in the article. Two mutations in the TWNK gene were detected in a 13-year-old girl with the phenotype of auditory
neuropathy spectrum disorder (ANSD). The nucleotide variant c.1523A>G (p.(Tyr508Cys), NM_021830.5) was previously described; another variant c.1199G>T (p.(Arg400Leu) NM_021830.5) is a new one with an unknown population frequency. The main value of this case is the combination
of mutations in the TWNK gene with the phenotype of ANSD, as well as the manifestation of the disease with hearing impairment but without
neurological symptoms, unlike what was described in the literature. Specifically, in this case, progression of hearing disorders, ineffective amplification, and limited CI effect were noted. Genetic testing results suggested endocrine system testing, which revealed ovarian dysfunction at a
preclinical stage; cerebellar ataxia was also diagnosed. The patient requires further monitoring by a multidisciplinary team.