{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T14:22:52Z","timestamp":1747146172394,"version":"3.40.5"},"reference-count":15,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,4,16]],"date-time":"2020-04-16T00:00:00Z","timestamp":1586995200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The aim of this article is to describe the first case of Hutchinson\u2010Gilford Progeria Syndrome (HGPS) in Togo and review all Africans cases. Our patient was a 12.8\u2010year\u2010old Togolese boy followed in our unit till he was 15\u2010year\u2010old for HGPS. He was the only child of non\u2010consanguineous parents. The phenotypic findings were craniofacial dysmorphy, dwarfism, lipodystrophy, diffusely scattered hyperpigmented foci, pyriform thorax, nail dystrophy, decreased joint mobility, and camptodactyly. He had characteristic facies with prominent forehead, prominent eyes, absent ear lobule, thin nasal skin, convex nasal profile, micrognathia, and crowded teeth. Radiologicals findings were bilateral coxa valga, pyriform thorax, and acro\u2010osteolysis. We sequenced the entire coding region of <jats:italic>LMNA<\/jats:italic> gene, and mutation analysis revealed a heterozygous mutation c.1824C&gt;T (p.Gly608Gly). Our patient is therefore the fifth African and the fourth with classical mutation, first of Western Africa, and second of (sub\u2010Saharan) African black race. The recurrence of HGPS is low like the cause is neomutation or germinal mosaicism.<\/jats:p>","DOI":"10.1002\/ajmg.a.61581","type":"journal-article","created":{"date-parts":[[2020,4,16]],"date-time":"2020-04-16T11:48:42Z","timestamp":1587037722000},"page":"1316-1320","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Hutchinson\u2010Gilford Progeria syndrome: Report of the first Togolese case"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2549-7610","authenticated-orcid":false,"given":"Koffi M.","family":"Guedenon","sequence":"first","affiliation":[{"name":"D\u00e9partement de P\u00e9diatrie, CHU Sylvanus Olympio, Facult\u00e9 des Sciences de la Sant\u00e9 Universit\u00e9 de Lom\u00e9  Lom\u00e9 Togo"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yassamine","family":"Doubaj","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale Institut National d'Hygi\u00e8ne  Rabat Morocco"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Djatougbe A. E.","family":"Akolly","sequence":"additional","affiliation":[{"name":"D\u00e9partement de P\u00e9diatrie, CHU Sylvanus Olympio, Facult\u00e9 des Sciences de la Sant\u00e9 Universit\u00e9 de Lom\u00e9  Lom\u00e9 Togo"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weli","family":"Barry Moussa","sequence":"additional","affiliation":[{"name":"D\u00e9partement de P\u00e9diatrie, CHU Sylvanus Olympio, Facult\u00e9 des Sciences de la Sant\u00e9 Universit\u00e9 de Lom\u00e9  Lom\u00e9 Togo"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bayaki","family":"Saka","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Dermatologie V\u00e9n\u00e9rologie, CHU Sylvanus Olympio, Facult\u00e9 des Sciences de la Sant\u00e9 Universit\u00e9 de Lom\u00e9  Lom\u00e9 Togo"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Komlavi","family":"Adjenou","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Radiologie et Imagerie M\u00e9dicale, CHU Campus, Facult\u00e9 des Sciences de la Sant\u00e9 Universit\u00e9 de Lom\u00e9  Lom\u00e9 Togo"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mofou","family":"Belo","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Neurologie, CHU Sylvanus Olympio, Facult\u00e9 des Sciences de la Sant\u00e9 Universit\u00e9 de Lom\u00e9  Lom\u00e9 Togo"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Machihude","family":"Pio","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Cardiologie, CHU Sylvanus Olympio, Facult\u00e9 des Sciences de la Sant\u00e9 Universit\u00e9 de Lom\u00e9  Lom\u00e9 Togo"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Komlan A.","family":"Mihluedo\u2010Agbolan","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Chirurgie P\u00e9diatrique, CHU Sylvanus Olympio, Facult\u00e9 des Sciences de la Sant\u00e9 Universit\u00e9 de Lom\u00e9  Lom\u00e9 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