Hutchinson-Gilford progeria syndrome

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To report a case of Hutchinson-Gilford progeria syndrome (HGPS). Peripheral blood samples were collected from a 5-year-old boy with HGPS and his parents. DNA was extracted from these samples, and PCR was performed to amplify exon 11 of the LMNA gene and its flanking sequences followed by DNA sequencing. The patient presented with scleroderma-like skin changes all over the body, growth retardation, distinctive facial features and hypotrichosis. His hip and knee joints could not be straightened completely, giving a horse-riding stance. A heterozygous mutation C.1824C>T was identified in exon 11 of the LMNA gene in the patient but not in either of his parents. A retrospective analysis was carried out on 18 Chinese patients with genetically diagnosed HPGS. Of them, 9 classical cases were all sporadic with a heterozygous mutation of C.1824C>T. None of the patients with classical HPGS showed abnormality at birth, but all of them developed symptoms within 1 year after birth. Boys were more frequent to be affected by classical HPGS than girls, with the male/female ratio being 2:1. There was a familial tendency for the occurrence of atypical HPGS, and boys and girls appeared to be affected by HPGS at a similar probability. Three families with atypical HPGS all showed a homozygous LMNA mutation c.1579C>T. Key words: Progeria; DNA mutational analysis; Molecular diagnostic techniques; Genetic phenomena; Genes, LMNA