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Diseases

Genetic and Rare Diseases Information Center (GARD)

Other Names for this Disease
  • HGPS
  • Hutchinson Gilford progeria syndrome
  • Hutchinson Gilford syndrome
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Your Question

Where is the gene responsible for Hutchinson-Gilford progeria syndrome located?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is progeria?

Progeria is a rare condition characterized by dramatic, rapid aging beginning in childhood.[1][2] Affected newborns usually appear normal but within a year, their growth rate slows significantly. Affected children develop a distinctive appearance characterized by baldness, aged-looking skin, a pinched nose, and a small face and jaw relative to head size. They also often have symptoms typically seen in much older people including joint stiffness, hip dislocations and severe, progressive cardiovascular disease. Intelligence is typically normal. The average lifespan is age 13; death is usually due to heart attack or stroke.[2] Progeria is caused by mutations in the LMNA gene, but almost always results from a new mutation rather than being inherited from a parent.[1] Management focuses on the individual signs and symptoms of the condition. Although there is currently no cure, research involving treatment is ongoing and progress is being made.
Last updated: 11/19/2012

What genes are related to Hutchinson-Gilford progeria syndrome?

Mutations in the LMNA gene cause Hutchinson-Gilford progeria syndrome.[1]

The LMNA gene provides instructions for making a protein called lamin A. This protein plays an important role in determining the shape of the nucleus within cells. It is an essential scaffolding (supporting) component of the nuclear envelope, which is the membrane that surrounds the nucleus. Mutations that cause Hutchinson-Gilford progeria syndrome result in the production of an abnormal version of the lamin A protein. The altered protein makes the nuclear envelope unstable and progressively damages the nucleus, making cells more likely to die prematurely. Researchers are working to determine how these changes lead to the characteristic features of Hutchinson-Gilford progeria syndrome.[1]

Last updated: 3/30/2010

Where is the LMNA gene located?

The LMNA gene is located on the long (q) arm of chromosome 1 between positions 21.2 and 21.3. More precisely, the LMNA gene is located from base pair 154,351,121 to base pair 154,376,494 on chromosome 1.[3]

Click here to view an image depicting the location of the LMNA gene.
Last updated: 3/30/2010

References