LMNA mutation in a 45 year old Japanese subject with Hutchinson-Gilford progeria syndrome

要旨

2] At birth, the appearance of patients with HGPS is generally normal, but by 1 year of age patients show severe growth retardation, balding, and sclerodermatous skin changes. They average ,1 m in height and usually weigh less than 15 kg even as teenagers. The age at death ranges from 7 to 28 years, with a median age of 13.4 years. Over 80% of deaths are due to heart attacks or congestive heart failure. We previously reported an extraordinarily long-lived patient with HGPS who survived to age 45. 4 At birth he appeared normal and his large head was noted at 1 year. Growth retardation was first noticed at the age of 12. He began to lose his hair during childhood and had total alopecia at age 20. When we examined him at the age of 44, he was 132 cm in height and 24.5 kg in weight and had all of the characteristic features listed above. He died of myocardial infarction at age 45. Thus, compared to classical cases of HGPS, the onset of the disease in our patient was late and it took a longer time to develop full-blown HGPS.

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