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Hutchinson–Gilford Progeria Syndrome: Clinical and Molecular Characterization

Acceso Abierto
ID Minciencias: ART-0000816353-235
Ranking: ART-ART_A2

Abstract:

Hutchinson-Gilford progeria syndrome (HGPS) is a rare congenital disease caused by mutations in the LMNA gene. Children with HGPS are phenotypically characterized by lipodystrophy, short height, low body weight, scleroderma, reduced joint mobility, osteolysis, senile facial features, and cardiovascular compromise that usually lead to death. We aimed to describe the case of a patient who reached above-average age expectancy for children with HGPS in Latin America and describe the clinical and molecular characteristics of the patient. A 14-year-old female patient was presented with progeria-compatible phenotypic characteristics. HGPS was confirmed via LMNA gene sequencing that detected a heterozygous c.1824C>T (p.Gly608Gly) mutation. The primary aim is to describe the HGPS case, the molecular gene mutation finding, and make a short review of the limited available treatment options for children with HGPS. Such as the farnesyl transferase inhibitors in conjunction with other pharmacological therapies that have insinuated improvement in health, and survival rate.

Tópico:

Nuclear Structure and Function

Citaciones:

Citations: 6
6

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Paperbuzz Score: 0
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Información de la Fuente:

SCImago Journal & Country Rank
FuenteThe Application of Clinical Genetics
Cuartil año de publicaciónNo disponible
VolumenVolume 13
IssueNo disponible
Páginas159 - 164
pISSNNo disponible
ISSNNo disponible

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