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In collaboration with other components, TMIE aids the maintenance and function of the sensory hair cells. Autosomal recessive deafness-6 (DFNB6) is caused by mutated <jats:italic>TMIE<\/jats:italic>, a gene in the high genetic heterogeneity spectrum of deafness. Hearing loss has a significant impact on the global economy and the quality of life of affected persons, their families, and society. Here, three unrelated families with <jats:italic>TMIE<\/jats:italic> variants are presented. All three cases were found while studying the genetic causes of an Iranian cohort of subjects with cochlear implants.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>Whole exome sequencing was performed to find possible genetic etiology in probands of families after a comprehensive medical evaluation for hearing loss. Co-segregation analysis in probands and other family members was performed by Sanger sequencing. The variants were interpreted per the American College of Medical Genetics and Genomics guidelines.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Three different variants associated with <jats:italic>TMIE<\/jats:italic> were confirmed as reasons for autosomal recessive non-syndromic deafness. The first novel\u2009~\u200910-kb deletion surrounding exon 1 of <jats:italic>TMIE<\/jats:italic> along with two previously reported variants co-segregated with families including a frameshift variant c.122_125dup (p.Pro43fs) and a missense variant c.250 C\u2009&gt;\u2009T; p.(Arg84Trp) in exons 2, and 3, respectively.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>This study increases the mutational spectrum of the <jats:italic>TMIE<\/jats:italic> gene and highlights the importance of the large deletion of this gene as a reason for hearing loss. Moreover, an efficient and simple multiplex PCR assay was developed to determine the exact breakpoints of the <jats:italic>TMIE<\/jats:italic> deletion.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12920-022-01287-9","type":"journal-article","created":{"date-parts":[[2022,6,16]],"date-time":"2022-06-16T12:12:57Z","timestamp":1655381577000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Analysis of TMIE gene mutations including the first large deletion of exon 1 with autosomal recessive non-syndromic deafness"],"prefix":"10.1186","volume":"15","author":[{"given":"Sima","family":"Rayat","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad","family":"Farhadi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hessamaldin","family":"Emamdjomeh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saeid","family":"Morovvati","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masoumeh","family":"Falah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,6,16]]},"reference":[{"key":"1287_CR1","first-page":"1237","volume":"46","author":"A Asghari","year":"2017","unstructured":"Asghari A, Farhadi M, Daneshi A, Khabazkhoob M, Mohazzab-Torabi S, Jalessi M, et al. 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