biostudies-literatureRyu YHKorean Government National Research Foundation of Koreae1412https://www.ebi.ac.uk/biostudies/studies/S-EPMC7549548biostudies-literatureUnknown8(10)<h4>Background</h4>Lacrimo-auriculo-dento-digital (LADD) syndrome is a rare autosomal dominant disorder caused by mutations in one of the three genes: fibroblast growth factor receptor 2 (FGFR2), FGFR3, or FGF10. Affected patients have hypoplasia/aplasia of lacrimal ducts/glands, hypoplasia/aplasia of salivary glands, dental anomalies, ear anomalies, hearing loss, and digital anomalies.<h4>Case presentation</h4>Proband was an 11-year-old male with xerostomia, xerophthalmia, and a referring diagnosis of Sjogren syndrome. He presented with microdontia, hypodontia, low-set/cupped ear auricles, and hearing loss in the left ear.<h4>Methods</h4>Whole exome sequencing (WES) was performed on proband. Variations and segregation within the family were verified using Sanger sequencing.<h4>Results</h4Molecular genetics & genomic medicineLacrimo-auriculo-dento-digital syndrome: A novel mutation in a Korean family and review of literature.PMC7549548NRF-2018R1A5A2024418Lee SKim JWRyu YHKyun Chae JfalseLacrimo-auriculo-dento-digital syndrome: A novel mutation in a Korean family and review of literature.<h4>Background</h4>Lacrimo-auriculo-dento-digital (LADD) syndrome is a rare autosomal dominant disorder caused by mutations in one of the three genes: fibroblast growth factor receptor 2 (FGFR2), FGFR3, or FGF10. Affected patients have hypoplasia/aplasia of lacrimal ducts/glands, hypoplasia/aplasia of salivary glands, dental anomalies, ear anomalies, hearing loss, and digital anomalies.<h4>Case presentation</h4>Proband was an 11-year-old male with xerostomia, xerophthalmia, and a referring diagnosis of Sjogren syndrome. He presented with microdontia, hypodontia, low-set/cupped ear auricles, and hearing loss in the left ear.<h4>Methods</h4>Whole exome sequencing (WES) was performed on proband. Variations and segregation within the family were verified using Sanger sequencing.<h4>Results</h42020-01-01T00:00:00Z2020 Oct2025-04-03T22:26:37.788Z2020-10-29T10:30:48ZS-EPMC75495483271565810.1002/mgg3.1412