关键词: 早衰, 分子诊断技术, LMNA基因

Abstract: Yang Fang*, Li Qian, Zheng Lixiong, Feng Sihang, Fang Sining, Yao Yongfeng. *Shenzhen People′s Hospital, Second Clinical Medical College, Jinan University, Shenzhen 518020, China Corresponding author: Fang Sining, Email: catherine2005@163.com 【Abstract】 Objective To report a case of Hutchinson-Gilford progeria syndrome, and to make a molecular genetic diagnosis. Methods Peripheral blood samples were collected from a 12-month-old child with Hutchinson-Gilford progeria syndrome, his parents, and 150 unrelated healthy controls. DNA was extracted from these samples, and PCR was performed to amplify exon 11 of the LMNA gene and its flanking sequence followed by sequencing. Results The patient presented with scleroderma-like tight skin on the trunk, hair loss and prominent scalp veins for 9 months, whose body height and weight were two standard deviations below the mean. Physical examination showed thin skin and prominent superficial veins over the scalp. The skin over the trunk was tight, hard, shiny and dry with a small number of tiny scales, mottled pigmentation and hypopigmentation, induration and hypertrophy giving a cobblestone-like appearance. The subcutaneous fat was diminished on the lower limbs. Skeletal X-ray examination of the left hand revealed phalangeal acroosteolysis. A known heterozygous mutation c.1824C > T （dbSNP: rs58596362） was detected in the exon 11 of the LMNA gene in the proband, but not in his parents or the 150 unrelated healthy controls. Conclusion The mutation c.1824C>T in the LMNA gene may be responsible for Hutchinson-Gilford progeria syndrome in this patient.

Key words: Progeria, Molecular diagnostic techniques, LMNA