Analysis of clinical characteristics and causative genes of Hutchinson-Gilford progeria syndrome in a family

Abstract

Objective To assess clinicopathological features of and genetic factors in Hutchinson-Gilford progeria syndrome（HGPS）in a family. Methods General information was collected from 3 patients with Hutchinson-Gilford progeria syndrome in a family, which included 5 members over 2 generations with all the 3 children affected by HGPS. All the 3 patients underwent clinical investigation, image analysis of hands, lungs and mandibles, as well as karyotype analysis of chromosomes. LMNA gene mutations were analyzed in these family members. Results All the 3 patients developed skin sclerosis with severe growth retardation and appearance of extreme aging at about 6 months of age. Image analysis showed osteoporosis and mandibular hypoplasia in the elder patient. Karyotype analysis showed no abnormality in the patients or their parents. Mutation analysis revealed a homozygous mutation 1579 C > T（R527C）in exon 9 of the LMNA gene in all the patients, but a heterozygous mutation R527C in the LMNA gene in their parents. Conclusions The patients in this family present characteristic manifestations of HGPS, which may be caused by the homozygous LMNA mutation R527C. Key words: Progeria; LMNA gene; DNA mutational analysis; Hutchinson-Gilford syndrome