{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T07:51:45Z","timestamp":1767858705931,"version":"3.49.0"},"reference-count":68,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2023,12,20]],"date-time":"2023-12-20T00:00:00Z","timestamp":1703030400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Swiss National Science Foundation","award":["31003A_176256"],"award-info":[{"award-number":["31003A_176256"]}]},{"name":"Swiss National Science Foundation","award":["310030_205196"],"award-info":[{"award-number":["310030_205196"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Mutations within the ectodysplasin A (EDA) gene have been associated with congenital hypotrichosis and anodontia (HAD\/XHED) in humans, mice, dogs and cattle. We identified a three-generation family of Fleckvieh cattle with male calves exhibiting clinical and histopathological signs consistent with an X-linked recessive HAD (XHED). Whole genome and Sanger sequencing of cDNA showed a perfect association of the missense mutation g.85716041G&gt;A (ss2019497443, rs1114816375) within the EDA gene with all three cases following an X-linked recessive inheritance, but normal EDAR and EDARADD. This mutation causes an exchange of glycine (G) with arginine (R) at amino acid position 227 (p.227G&gt;R) in the second collagen triple helix repeat domain of EDA. The EDA variant was associated with a significant reduction and underdevelopment of hair follicles along with a reduced outgrowth of hairs, a complete loss of seromucous nasolabial and mucous tracheal and bronchial glands and a malformation of and reduction in number of teeth. Thermostability of EDA G227R was reduced, consistent with a relatively mild hair and tooth phenotype. However, incisors and canines were more severely affected in one of the calves, which correlated with the presence of a homozygous missense mutation of RNF111 (g.51306765T&gt;G), a putative candidate gene possibly associated with tooth number in EDA-deficient Fleckvieh calves.<\/jats:p>","DOI":"10.3390\/genes15010008","type":"journal-article","created":{"date-parts":[[2023,12,20]],"date-time":"2023-12-20T03:51:45Z","timestamp":1703044305000},"page":"8","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A Missense Mutation in the Collagen Triple Helix of EDA Is Associated with X-Linked Recessive Hypohidrotic Ectodermal Dysplasia in Fleckvieh Cattle"],"prefix":"10.3390","volume":"15","author":[{"given":"Sina","family":"Reinartz","sequence":"first","affiliation":[{"name":"Institute for Animal Breeding and Genetics, University of Veterinary Medicine, 30559 Hannover, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Wei\u00df","sequence":"additional","affiliation":[{"name":"Clinic for Swine, Ludwig-Maximilians-Universit\u00e4t M\u00fcnchen, 80539 Munich, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maike","family":"Heppelmann","sequence":"additional","affiliation":[{"name":"Clinic for Cattle, University of Veterinary Medicine, 30173 Hannover, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marion","family":"Hewicker-Trautwein","sequence":"additional","affiliation":[{"name":"Institute of Pathology, University of Veterinary Medicine, 30559 Hannover, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0549-2983","authenticated-orcid":false,"given":"Maren","family":"Hellige","sequence":"additional","affiliation":[{"name":"Clinic for Horses, University of Veterinary Medicine, 30559 Hannover, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laure","family":"Willen","sequence":"additional","affiliation":[{"name":"Department of Immunobiology, University of Lausanne, 1066 Epalinges, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karsten","family":"Feige","sequence":"additional","affiliation":[{"name":"Clinic for Horses, University of Veterinary Medicine, 30559 Hannover, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0677-9409","authenticated-orcid":false,"given":"Pascal","family":"Schneider","sequence":"additional","affiliation":[{"name":"Department of Immunobiology, University of Lausanne, 1066 Epalinges, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3516-836X","authenticated-orcid":false,"given":"Ottmar","family":"Distl","sequence":"additional","affiliation":[{"name":"Institute for Animal Breeding and Genetics, University of Veterinary Medicine, 30559 Hannover, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,12,20]]},"reference":[{"key":"ref_1","first-page":"285","article-title":"Hypohidrotic ectodermal dysplasia: Characteristics and treatment","volume":"26","author":"Kupietzky","year":"1995","journal-title":"Quintessence Int."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1589","DOI":"10.1093\/hmg\/6.9.1589","article-title":"Cloning of Tabby, the murine homolog of the human EDA gene: Evidence for a membrane-associated protein with a short collagenous domain","volume":"6","author":"Ferguson","year":"1997","journal-title":"Hum. 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