You are here

Article Text

Article menu
Download PDFPDF
Online mutation report
LMNA mutation in a 45 year old Japanese subject with Hutchinson-Gilford progeria syndrome
  1. K Fukuchi1,
  2. T Katsuya2,
  3. K Sugimoto2,
  4. M Kuremura2,
  5. H D Kim1,
  6. L Li3,
  7. T Ogihara2
  1. 1Department of Genetics, Schools of Medicine and Dentistry, University of Alabama at Birmingham, Birmingham, AL 35294-0024, USA
  2. 2Department of Geriatric Medicine, Osaka University Graduate School of Medicine, Suita, Osaka 565-0871, Japan
  3. 3Department of Medicine, School of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294-0024, USA
  1. Correspondence to:
 K Fukuchi, MD, PhD
 UAB Department of Genetics, KHGB 640B, 720 South 20th Street, Birmingham, AL 35294-0024, USA; fukuchiuab.edu

https://doi.org/10.1136/jmg.2003.014688

Statistics from Altmetric.com

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

    Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder phenotypically characterised by many features of premature aging.1–3 The characteristic features include short stature, prominent eyes, micrognathia, craniofacial disproportion, loss of subcutaneous fat, alopecia, beaked nose, “plucked-bird” appearance, coax valga, pathologic bone fractures, atherosclerosis, and cardiovascular disorders. 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.

    Recently, mutations in the lamin A/C gene (LMNA) which cause classical cases of HGPS have been identified.5–7 The molecular mechanism by which these mutations produce the characteristic manifestations of HGPS remains to be elucidated. Therefore, it is of great interest to investigate the molecular basis of our patient, which allowed him to live about three fold longer than classical …

    View Full Text

    Footnotes

    • Conflicts of interest: none declared.