{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T22:23:37Z","timestamp":1780525417205,"version":"3.54.1"},"reference-count":9,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,10,13]],"date-time":"2025-10-13T00:00:00Z","timestamp":1760313600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,2]]},"abstract":"ABSTRACT<\/jats:title>\n \n Hereditary nonsyndromic hearing loss (NSHL) is a prevalent entity associated with over 150 known causative genes, including\n LMX1A<\/jats:italic>\n , which has fewer than 10 reported pathogenic variants. Here we present a novel missense variant in\n LMX1A<\/jats:italic>\n in a family of European descent with hereditary hearing loss. Clinical and family histories were obtained, and genetic testing was performed on two affected members using the BMGDL Hearing Loss Panel. Allelic frequencies were explored across population databases, and in silico predictors were used to assess pathogenicity. Genetic testing revealed a variant of uncertain significance (p.Val241Ala) in\n LMX1A<\/jats:italic>\n in a 56\u2010year\u2010old male with hearing loss since adolescence and his 12\u2010year\u2010old son, who failed newborn hearing screening. Family history exhibited an autosomal dominant inheritance pattern, supported by the segregation of this variant in both affected individuals. The p.Val241Ala variant was absent in GnomAD, indicating the variant's rarity, and in silico predictors reported strong pathogenic potential. Other pathogenic missense variants have previously been reported at the same Val241 site, suggesting that this location may be a hotspot for pathogenic variants contributing to NSHL, although further research is needed. This study expands the current understanding of how LMX1A relates to autosomal dominant hearing loss.\n <\/jats:p>","DOI":"10.1002\/ajmg.a.64281","type":"journal-article","created":{"date-parts":[[2025,10,13]],"date-time":"2025-10-13T21:15:50Z","timestamp":1760390150000},"page":"531-534","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A Novel Missense Variant in\n \n LMX1A<\/i>\n <\/scp>\n Leads to Autosomal Dominant Nonsyndromic Hearing Loss"],"prefix":"10.1002","volume":"200","author":[{"given":"Ryan","family":"Chen","sequence":"first","affiliation":[{"name":"Miller School of Medicine University of Miami Miami Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dayna Morel","family":"Swols","sequence":"additional","affiliation":[{"name":"Miller School of Medicine University of Miami Miami Florida USA"},{"name":"Department of Human Genetics Miller School of Medicine, University of Miami Miami Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guney","family":"Bademci","sequence":"additional","affiliation":[{"name":"Miller School of Medicine University of Miami Miami Florida USA"},{"name":"Department of Human Genetics Miller School of Medicine, University of Miami Miami Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3525-7960","authenticated-orcid":false,"given":"Mustafa","family":"Tekin","sequence":"additional","affiliation":[{"name":"Miller School of Medicine University of Miami Miami Florida USA"},{"name":"Department of Human Genetics Miller School of Medicine, University of Miami Miami Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,10,13]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2009.06.016"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24095"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/AUD.0000000000001237"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010022\u201002443\u2010y"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2025.1537505"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010018\u20101899\u20107"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0051065"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010018\u20101880\u20105"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddac301"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.64281","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,5]],"date-time":"2026-01-05T13:39:11Z","timestamp":1767620351000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.64281"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10,13]]},"references-count":9,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2026,2]]}},"alternative-id":["10.1002\/ajmg.a.64281"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.64281","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,10,13]]},"assertion":[{"value":"2025-08-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-10-03","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-10-13","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}