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Hutchinson‐Gilford Progeria syndrome: Report of the first Togolese case
Author(s) -
Guede Koffi M.,
Doubaj Yassamine,
Akolly Djatougbe A. E.,
Barry Moussa Weli,
Saka Bayaki,
Adjenou Komlavi,
Belo Mofou,
Pio Machihude,
MihluedoAgbolan Komlan A.,
Vonor Kokou,
Amedome Kokou M.,
Tchaou Mazamaesso,
Atakouma Yawo D.,
Gbadoe Adama D.,
Dossou Comlan F.,
Fiawoo Mawouto,
Gnassingbe Komla,
Pitche Palokinam,
Agbèrè Diparidè A.,
Gnamey Didier K.
Publication year - 2020
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61581
Subject(s) - progeria , medicine , lmna , camptodactyly , anatomy , short stature , dermatology , genetics , biology , lamin , nucleus , psychiatry , gene
The aim of this article is to describe the first case of Hutchinson‐Gilford Progeria Syndrome (HGPS) in Togo and review all Africans cases. Our patient was a 12.8‐year‐old Togolese boy followed in our unit till he was 15‐year‐old for HGPS. He was the only child of non‐consanguineous 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‐osteolysis. We sequenced the entire coding region of LMNA gene, and mutation analysis revealed a heterozygous mutation c.1824C>T (p.Gly608Gly). Our patient is therefore the fifth African and the fourth with classical mutation, first of Western Africa, and second of (sub‐Saharan) African black race. The recurrence of HGPS is low like the cause is neomutation or germinal mosaicism.