Hutchinson‐Gilford Progeria syndrome: Report of the first Togolese case

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 phe...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2020-06, Vol.182 (6), p.1316-1320
Main Authors: Guedenon, Koffi M., Doubaj, Yassamine, Akolly, Djatougbe A. E., Barry Moussa, Weli, Saka, Bayaki, Adjenou, Komlavi, Belo, Mofou, Pio, Machihude, Mihluedo‐Agbolan, 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.
Format: Article
Language:English
Subjects:
Adolescent
Camptodactyly
Child
Coxa
Craniofacial Abnormalities - genetics
Craniofacial Abnormalities - pathology
Dwarfism
Dwarfism - genetics
Dwarfism - pathology
Genetic Predisposition to Disease
Humans
Hutchinson‐Gilford
Lamin Type A - genetics
Lipodystrophy
Lipodystrophy - genetics
Lipodystrophy - pathology
LMNA
Male
Mosaicism
Mutation
Osteolysis
Progeria
Progeria - genetics
Progeria - pathology
Togo
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Summary: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.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.61581