{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,20]],"date-time":"2026-03-20T01:36:42Z","timestamp":1773970602943,"version":"3.50.1"},"reference-count":32,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,3,19]],"date-time":"2023-03-19T00:00:00Z","timestamp":1679184000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100008974","name":"University of Social Welfare and Rehabilitation Sciences","doi-asserted-by":"publisher","award":["2020\u2010T\u20102405"],"award-info":[{"award-number":["2020\u2010T\u20102405"]}],"id":[{"id":"10.13039\/501100008974","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2023,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>To date, over 400 syndromes with hearing impairment have been identified which altogether constitute almost 30% of hereditary hearing loss (HL) cases around the globe. Manifested as complete or partial labyrinthine aplasia (severe malformations of the inner ear structure), type I microtia (smaller outer ear with shortened auricles), and microdontia (small and widely spaced teeth), labyrinthine aplasia, microtia, and microdontia (LAMM) syndrome (OMIM 610706) is an extremely rare autosomal recessive condition caused by bi\u2010allelic mutations in the <jats:italic>FGF3<\/jats:italic> gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Using the whole\u2010exome sequencing (WES) data of the proband, we analyzed a consanguineous Iranian family with three affected members presenting with congenital bilateral HL, type I microtia, and microdontia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We discovered the homozygous deletion c.45delC in the first exon of the <jats:italic>FGF3<\/jats:italic> gene, overlapping a 38.72\u2009Mb homozygosity region in chromosome 11. Further investigations using Sanger sequencing revealed that this variant co\u2010segregated with the phenotype observed in the family.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Here, we report the first identified case of LAMM syndrome in Iran, and by identifying a frameshift variant in the first exon of the <jats:italic>FGF3<\/jats:italic> gene, our result will help better clarify the phenotype\u2013genotype relation of LAMM syndrome.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2168","type":"journal-article","created":{"date-parts":[[2023,3,19]],"date-time":"2023-03-19T17:34:43Z","timestamp":1679247283000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Identification of a homozygous frameshift mutation in the <i>FGF3<\/i> gene in a consanguineous Iranian family: First report of labyrinthine aplasia, microtia, and microdontia syndrome in Iran and literature review"],"prefix":"10.1002","volume":"11","author":[{"given":"Fereshteh","family":"Jamshidi","sequence":"first","affiliation":[{"name":"Genetics Research Center University of Social Welfare and Rehabilitation Sciences  Koodakyar Alley, Daneshjoo Blvd., Evin St. 1985713834 Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ebrahim","family":"Shokouhian","sequence":"additional","affiliation":[{"name":"Genetics Research Center University of Social Welfare and Rehabilitation Sciences  Koodakyar Alley, Daneshjoo Blvd., Evin St. 1985713834 Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1200-4044","authenticated-orcid":false,"given":"Marzieh","family":"Mohseni","sequence":"additional","affiliation":[{"name":"Genetics Research Center University of Social Welfare and Rehabilitation Sciences  Koodakyar Alley, Daneshjoo Blvd., Evin St. 1985713834 Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6587-7706","authenticated-orcid":false,"given":"Kimia","family":"Kahrizi","sequence":"additional","affiliation":[{"name":"Genetics Research Center University of Social Welfare and Rehabilitation Sciences  Koodakyar Alley, Daneshjoo Blvd., Evin St. 1985713834 Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6084-7778","authenticated-orcid":false,"given":"Hossein","family":"Najmabadi","sequence":"additional","affiliation":[{"name":"Genetics Research Center University of Social Welfare and Rehabilitation Sciences  Koodakyar Alley, Daneshjoo Blvd., Evin St. 1985713834 Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1595-2456","authenticated-orcid":false,"given":"Mojgan","family":"Babanejad","sequence":"additional","affiliation":[{"name":"Genetics Research Center University of Social Welfare and Rehabilitation Sciences  Koodakyar Alley, Daneshjoo Blvd., Evin St. 1985713834 Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,3,19]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410\u2010248"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes10070529"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.141"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.272.47.29475"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkw408"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/mcd.0000000000000254"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.05.019"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes11111329"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.006627"},{"issue":"3","key":"e_1_2_13_11_1","first-page":"155","article-title":"Michel's anomaly, type I microtia and microdontia","volume":"70","author":"Hersh J. 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