{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T21:38:39Z","timestamp":1778362719647,"version":"3.51.4"},"reference-count":18,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2017,5,12]],"date-time":"2017-05-12T00:00:00Z","timestamp":1494547200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001509","name":"Royal Society of New Zealand","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001509","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001515","name":"Cure Kids","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001515","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,7]]},"abstract":"<jats:sec><jats:label\/><jats:p>Frontometaphyseal dysplasia (FMD) is caused by gain\u2010of\u2010function mutations in the X\u2010linked gene <jats:italic>FLNA<\/jats:italic> in approximately 50% of patients. Recently we characterized an autosomal dominant form of FMD (AD\u2010FMD) caused by mutations in <jats:italic>MAP3K7<\/jats:italic>, which accounts for the condition in the majority of patients who lack a <jats:italic>FLNA<\/jats:italic> mutation. We previously also described a patient with a de novo variant in <jats:italic>TAB2<\/jats:italic>, which we hypothesized was causative of another form of AD\u2010FMD. In this study, a cohort of 20 individuals with AD\u2010FMD is clinically evaluated. This cohort consists of 15 individuals with the recently described, recurrent mutation (c.1454C&gt;T) in <jats:italic>MAP3K7<\/jats:italic>, as well as three individuals with missense mutations that result in substitutions in the N\u2010terminal kinase domain of TGF\u03b2\u2010activated kinase 1 (TAK1), encoded by <jats:italic>MAP3K7<\/jats:italic>. Additionally, two individuals have missense variants in the gene <jats:italic>TAB2<\/jats:italic>, which encodes a protein with a close functional relationship to TAK1, TAK1\u2010associated binding protein 2 (TAB2). Although the X\u2010linked and autosomal dominant forms of FMD are very similar, there are distinctions to be made between the two conditions. Individuals with AD\u2010FMD have characteristic facial features, and are more likely to be deaf, have scoliosis and cervical fusions, and have a cleft palate. Furthermore, there are features only found in AD\u2010FMD in our review of the literature including valgus deformity of the feet and predisposition to keloid scarring. Finally, intellectual disability is present in a small number of subjects with AD\u2010FMD but has not been described in association with X\u2010linked FMD.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38267","type":"journal-article","created":{"date-parts":[[2017,5,12]],"date-time":"2017-05-12T14:09:25Z","timestamp":1494598165000},"page":"1739-1746","source":"Crossref","is-referenced-by-count":27,"title":["Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype"],"prefix":"10.1002","volume":"173","author":[{"given":"Emma M.","family":"Wade","sequence":"first","affiliation":[{"name":"Department of Women's and Children's Health, Dunedin School of Medicine University of Otago Dunedin New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zandra A.","family":"Jenkins","sequence":"additional","affiliation":[{"name":"Department of Women's and Children's Health, Dunedin School of Medicine University of Otago Dunedin New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philip B.","family":"Daniel","sequence":"additional","affiliation":[{"name":"Department of Women's and Children's Health, Dunedin School of Medicine University of Otago Dunedin New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tim","family":"Morgan","sequence":"additional","affiliation":[{"name":"Department of Women's and Children's Health, Dunedin School of Medicine University of Otago Dunedin New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie C.","family":"Addor","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale Maternit\u00e9 CHUV Lausanne Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lesley C.","family":"Ad\u00e9s","sequence":"additional","affiliation":[{"name":"Discipline of Pediatrics and Child Health, University of Sydney and Department of Clinical Genetics The Children's Hospital, Westmead Sydney Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Debora","family":"Bertola","sequence":"additional","affiliation":[{"name":"Genetics Unity, Instituto da Crian\u00e7a Hospital das Clinicas da Faculdade de Medicina S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Axel","family":"Bohring","sequence":"additional","affiliation":[{"name":"Institut fur Humangenetik Universitatsklinikum Munster Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erin","family":"Carter","sequence":"additional","affiliation":[{"name":"Kathryn O. and Alan C. 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M.","family":"Hennekam","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Academic Medical Center University of Amsterdam Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chong A.","family":"Kim","sequence":"additional","affiliation":[{"name":"Genetics Unity, Instituto da Crian\u00e7a Hospital das Clinicas da Faculdade de Medicina S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9906-4968","authenticated-orcid":false,"given":"Deborah","family":"Krakow","sequence":"additional","affiliation":[{"name":"David Geffen School of Medicine UCLA Los Angeles California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eva","family":"Morava","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University Hospital Leuven Leuven 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