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Case Reports
. 2020 Jun;182(6):1316-1320.
doi: 10.1002/ajmg.a.61581. Epub 2020 Apr 16.

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

Koffi M Guedenon  1 , Yassamine Doubaj  2 , Djatougbe A E Akolly  1 , Weli Barry Moussa  1 , Bayaki Saka  3 , Komlavi Adjenou  4 , Mofou Belo  5 , Machihude Pio  6 , Komlan A Mihluedo-Agbolan  7 , Kokou Vonor  8 , Kokou M Amedome  9 , Mazamaesso Tchaou  10 , Yawo D Atakouma  1 , Adama D Gbadoe  11 , Comlan F Dossou  12 , Mawouto Fiawoo  1 , Komla Gnassingbe  7 , Palokinam Pitche  3 , Diparidè A Agbèrè  13 , Didier K Gnamey  1
Affiliations
Case Reports

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

Koffi M Guedenon et al. Am J Med Genet A. 2020 Jun.

Abstract

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.

Keywords: LMNA; Hutchinson-Gilford; Togo; progeria.

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References

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