The Application of Clinical Genetics (Sep 2020)
Hutchinson–Gilford Progeria Syndrome: Clinical and Molecular Characterization
Abstract
Harry Pachajoa,1,2 Angelica Claros-Hulbert,3,4 Ximena García-Quintero,3,4 Lina Perafan,1 Andres Ramirez,5 Andres F Zea-Vera6 1Faculty of Health Sciences, Congenital Anomalies and Rare Diseases Investigation Center (CIACER), Universidad Icesi, Cali, Colombia; 2Genetic Department, Fundacion Valle del Lili, Cali, Colombia; 3Pediatric Palliative Care Department, Fundacion Valle del Lili, Cali, Colombia; 4Clinical Investigation Center (CIC), Fundacion Valle del Lili, Cali, Colombia; 5Faculty of Health Sciences, Praxis Jessen² + Kollegen, Berlin, Germany; 6Faculty of Health Sciences, Universidad del Valle, Cali, ColombiaCorrespondence: Harry Pachajoa Tel +57 3005757597Email [email protected]: 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.Keywords: HGPS, progeria, premature aging, genetic assessment, laminopathy, treatment
