{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,18]],"date-time":"2026-01-18T15:45:07Z","timestamp":1768751107338,"version":"3.49.0"},"reference-count":39,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2024,12,26]],"date-time":"2024-12-26T00:00:00Z","timestamp":1735171200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Research Foundation of Korea (NRF)","award":["NRF-2018R1A5A2024418"],"award-info":[{"award-number":["NRF-2018R1A5A2024418"]}]},{"name":"National Research Foundation of Korea (NRF)","award":["NRF-2020R1A2C2100543"],"award-info":[{"award-number":["NRF-2020R1A2C2100543"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Background\/Objectives: The ectodysplasin A (EDA) gene, a member of the tumor necrosis factor ligand superfamily, is involved in the early epithelial\u2013mesenchymal interaction that regulates ectoderm-derived appendage formation. Numerous studies have shown that mutations in the EDA gene can cause X-linked ectodermal dysplasia (ED) and non-syndromic oligodontia (NSO). Accordingly, this study aimed to identify the causative genetic mutations of the EDA gene. Methods: We investigated EDA gene mutations in two X-linked oligodontia families using candidate gene sequencing and whole-exome sequencing, with a single proband identified and studied for each family. The first family included a patient with NSO, while the second family had a patient exhibiting variable expression of ED. Results: Mutational analysis identified two missense mutations in the EDA gene (NM_001399.5): one novel mutation, c.787A&gt;C p.(Lys263Gln), in family 2; and one previously reported mutation, c.457C&gt;T p.(Arg153Cys), in family 1. All mutated residues are evolutionarily highly conserved amino acids. The p.(Arg153Cys) mutation would destroy the furin recognition site and affect the cleavage of EDA. The p.(Lys263Gln) mutation in a TNF homology domain would interfere with the binding of the EDA receptor. The p.(Lys263Gln) mutation was associated with NSO, while the other mutation demonstrated ED. Conclusions: This study helps to better understand the nature of EDA-related ED and NSO and their pathogenesis, and it expands the mutational spectrum of EDA mutations.<\/jats:p>","DOI":"10.3390\/genes16010012","type":"journal-article","created":{"date-parts":[[2024,12,26]],"date-time":"2024-12-26T03:10:49Z","timestamp":1735182649000},"page":"12","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["EDA Mutations Causing X-Linked Recessive Oligodontia with Variable Expression"],"prefix":"10.3390","volume":"16","author":[{"given":"Ye Ji","family":"Lee","sequence":"first","affiliation":[{"name":"Department of Pediatric Dentistry & DRI, School of Dentistry, Seoul National University, Seoul 03080, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Youn Jung","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dentistry & DRI, School of Dentistry, Seoul National University, Seoul 03080, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wonseon","family":"Chae","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dentistry & DRI, School of Dentistry, Seoul National University, Seoul 03080, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seon Hee","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dentistry & DRI, School of Dentistry, Seoul National University, Seoul 03080, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9399-2197","authenticated-orcid":false,"given":"Jung-Wook","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dentistry & DRI, School of Dentistry, Seoul National University, Seoul 03080, Republic of Korea"},{"name":"Department of Molecular Genetics & DRI, School of Dentistry, Seoul National University, Seoul 03080, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,12,26]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1111\/j.1600-0722.2008.00555.x","article-title":"Mutations in the EDA gene are responsible for X-linked hypohidrotic ectodermal dysplasia and hypodontia in Chinese kindreds","volume":"116","author":"Fan","year":"2008","journal-title":"Eur. 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