{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T18:41:25Z","timestamp":1792176085299,"version":"4.4.0"},"reference-count":31,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2020,7,26]],"date-time":"2020-07-26T00:00:00Z","timestamp":1595721600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"name":"Korean Government National Research Foundation of Korea","award":["NRF-2018R1A5A2024418"],"award-info":[{"award-number":["NRF-2018R1A5A2024418"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Lacrimo\u2010auriculo\u2010dento\u2010digital (LADD) syndrome is a rare autosomal dominant disorder caused by mutations in one of the three genes: fibroblast growth factor receptor 2 (<jats:italic>FGFR2<\/jats:italic>), <jats:italic>FGFR3<\/jats:italic>, or <jats:italic>FGF10<\/jats:italic>. Affected patients have hypoplasia\/aplasia of lacrimal ducts\/glands, hypoplasia\/aplasia of salivary glands, dental anomalies, ear anomalies, hearing loss, and digital anomalies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case Presentation<\/jats:title><jats:p>Proband was an 11\u2010year\u2010old male with xerostomia, xerophthalmia, and a referring diagnosis of Sjogren syndrome. He presented with microdontia, hypodontia, low\u2010set\/cupped ear auricles, and hearing loss in the left ear.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Whole exome sequencing (WES)\u00a0was performed on\u00a0proband. Variations and segregation within the family were verified using Sanger sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Molecular studies revealed a novel heterozygous missense mutation in exon 11 of <jats:italic>FGFR2<\/jats:italic>: c.1547C&gt;T (p.Ala516Val), compatible with LADD syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>To the best of our knowledge, this is the first report of a family with LADD syndrome in Korea. The combination of xerostomia and xerophthalmia, seen in patients with LADD syndrome, may be misdiagnosed as Sjogren syndrome. WES may be a useful clinical tool in ascertaining the affected gene in patients with suspected genetic disorders. Here, a literature review and summary of 23 case reports\/series of LADD syndrome are presented, which may help to identify patients with this condition.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1412","type":"journal-article","created":{"date-parts":[[2020,7,27]],"date-time":"2020-07-27T06:10:29Z","timestamp":1595830229000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Lacrimo\u2010auriculo\u2010dento\u2010digital syndrome: A novel mutation in a Korean family and review of literature"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7369-773X","authenticated-orcid":false,"given":"Young Hye","family":"Ryu","sequence":"first","affiliation":[{"name":"Department of Pediatrics Seoul National University Children's Hospital Seoul National University College of Medicine Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jong","family":"Kyun Chae","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dentistry School of Dentistry &amp; Dental Research Institute Seoul National University Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9399-2197","authenticated-orcid":false,"given":"Jung\u2010Wook","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dentistry School of Dentistry &amp; Dental Research Institute Seoul National University Seoul Korea"},{"name":"Department of Molecular Genetics School of Dentistry &amp; Dental Research Institute Seoul National University Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9627-6607","authenticated-orcid":false,"given":"Soyoung","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Seoul National University Children's Hospital Seoul National University College of Medicine Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,7,26]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1177\/000348940010900814"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tripleo.2008.07.019"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.adaj.2016.11.016"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1259\/dmfr\/65931528"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0022\u20103476(73)80268\u20109"},{"key":"e_1_2_5_7_1","first-page":"153","article-title":"Lacrimo\u2010auriculo\u2010dento\u2010digital (LADD) syndrome","volume":"10","author":"Hollister D. 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