National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Progeria

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What chromosome is this disorder on? How many people are affected by this disorder?

The following information may help to address your question:


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: 10/28/2015

Where is the LMNA gene located?

The LMNA gene is located on the long (q) arm of chromosome 1 at position 22. More precisely, the LMNA gene is located from base pair 156, 082,545 to base pair 156,140,088 on chromosome 1.[2]

Click here to view an image depicting the location of the LMNA gene.
Last updated: 10/28/2015

How many people are affected by progeria?

Progeria is very rare. It is reported to occur in 1 in 4-8 million newborns worldwide.[1][3][4] It is estimated that at any one time, there are between 200-250 children living with progeria.[4] 
Last updated: 10/28/2015

We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please contact us.

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GARD Information Specialist

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  1. Hutchinson-Gilford progeria syndrome. Genetics Home Reference (GHR). 2007; http://ghr.nlm.nih.gov/condition/hutchinson-gilford-progeria-syndrome.
  2. LMNA gene. Genetics Home Reference (GHR). June 2017; http://ghr.nlm.nih.gov/gene/LMNA.
  3. Learning About Progeria. National Human Genome Research Institute (NHGRI). December 27, 2013; http://www.genome.gov/11007255.
  4. Progeria 101 / FAQ. Progeria Research Foundation. 2015; https://www.progeriaresearch.org/progeria-101faq/.