Hutchinson-Gilford progeria syndrome

Hutchinson-Gilford progeria syndrome is a genetic condition characterized by the dramatic, rapid appearance of aging beginning in childhood. Affected children typically look normal at birth and in early infancy, but then grow more slowly than other children and develop a characteristic facial appearance, hair loss, aged-looking skin, and severe hardening of the arteries (atherosclerosis).

This condition is very rare; it is reported to affect 1 in 8 million newborns worldwide.

Mutations in the LMNA gene cause Hutchinson-Gilford progeria syndrome.

The LMNA gene makes two proteins, lamin A and lamin C. These proteins are essential scaffolding (supporting) components of a membrane called the nuclear envelope, which surrounds the nucleus in cells. Mutations that cause Hutchinson-Gilford progeria syndrome disrupt the normal production of the lamin A protein. (The location of the mutations in the LMNA gene does not affect the production of lamin C.) Changes in the structure and function of lamin A appear to alter the structure of the nuclear envelope. Researchers have not yet determined how these changes lead to the characteristic features of Hutchinson-Gilford progeria syndrome.

This condition is likely inherited in an autosomal dominant pattern, which means one copy of the altered gene is sufficient to cause the disorder. The condition results from new mutations in the LMNA gene, and almost always occurs in people with no history of the disorder in their family.

You may find the following resources about Hutchinson-Gilford progeria syndrome helpful.

• NIH Publications - National Institutes of Health
  Learning About Progeria (National Human Genome Research Institute)
• MedlinePlus - Health Information (2 links)
• Educational resources - Information pages (2 links)
• Patient support - For patients and families (2 links)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

• Gene Reviews - Clinical summary
• Gene Tests - DNA tests ordered by healthcare professionals
• ClinicalTrials.gov - Linking patients to medical research
• PubMed - Recent literature
• OMIM - Genetic disorder catalog

See How are genetic conditions and genes named? in the Handbook.

The Handbook provides basic information about genetics in clear language.

• What does it mean if a disorder seems to run in my family?
• What are the different ways in which a genetic condition can be inherited?
• If a genetic disorder runs in my family, what are the chances that my children will have the condition?
• Why are some genetic conditions more common in particular ethnic groups?

These links provide additional genetics resources that may be useful.

• Genetics and health
• Resources for Patients and Families
• Resources for Health Professionals

atherosclerosis ; autosomal ; autosomal dominant ; gene ; lamin ; mutation ; new mutation ; nuclear envelope ; nucleus ; protein

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.