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Hutchinson-Gilford progeria syndrome

Reviewed July 2007

What is 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 do not gain weight at the expected rate (failure to thrive). They develop a characteristic facial appearance including prominent eyes, a thin nose with a beaked tip, thin lips, a small chin, and protruding ears. Hutchinson-Gilford progeria syndrome also causes hair loss (alopecia), aged-looking skin, joint abnormalities, and a loss of fat under the skin (subcutaneous fat). This condition does not disrupt intellectual development or the development of motor skills such as sitting, standing, and walking.

People with Hutchinson-Gilford progeria syndrome experience severe hardening of the arteries (arteriosclerosis) beginning in childhood. This condition greatly increases the chances having a heart attack or stroke at a young age. These serious complications can worsen over time and are life-threatening for affected individuals.

How common is Hutchinson-Gilford progeria syndrome?

This condition is very rare; it is reported to occur in 1 in 4 million newborns worldwide. More than 130 cases have been reported in the scientific literature since the condition was first described in 1886.

What genes are related to Hutchinson-Gilford progeria syndrome?

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

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.

Related Gene(s)

Changes in this gene are associated with Hutchinson-Gilford progeria syndrome.

  • LMNA

How do people inherit Hutchinson-Gilford progeria syndrome?

Hutchinson-Gilford progeria syndrome is considered an autosomal dominant condition, which means one copy of the altered gene in each cell 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.

Where can I find information about diagnosis or management of Hutchinson-Gilford progeria syndrome?

These resources address the diagnosis or management of Hutchinson-Gilford progeria syndrome and may include treatment providers.

  • Gene Review: Hutchinson-Gilford Progeria Syndrome (http://www.ncbi.nlm.nih.gov/books/NBK1121/)
  • Genetic Testing Registry: Hutchinson-Gilford syndrome (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0033300)
  • MedlinePlus Encyclopedia: Progeria (http://www.nlm.nih.gov/medlineplus/ency/article/001657.htm)

You might also find information on the diagnosis or management of Hutchinson-Gilford progeria syndrome in Educational resources (http://www.ghr.nlm.nih.gov/condition/hutchinson-gilford-progeria-syndrome/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/hutchinson-gilford-progeria-syndrome/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about Hutchinson-Gilford progeria syndrome?

You may find the following resources about Hutchinson-Gilford progeria syndrome helpful. These materials are written for the general public.

  • MedlinePlus - Health information

    • Encyclopedia: Progeria (http://www.nlm.nih.gov/medlineplus/ency/article/001657.htm)
    • Health Topic: Metabolic Disorders (http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html)
  • Genetic and Rare Diseases Information Center - Information about genetic conditions and rare diseases (http://rarediseases.info.nih.gov/gard/7467/resources/resources/1)
  • Additional NIH Resources - National Institutes of Health
    National Human Genome Research Institute (http://www.genome.gov/11007255)

  • Educational resources - Information pages

    • Madisons Foundation (http://www.madisonsfoundation.org/index.php?option=com_mpower&task=disease&diseaseID=641)
    • Merck Manual for Healthcare Professionals, Second Home Edition (http://www.merckmanuals.com/professional/pediatrics/miscellaneous_disorders_in_infants_and_children/progeria.html)
    • Orphanet (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=740)

  • Patient support - For patients and families

    • Family Village (http://www.familyvillage.wisc.edu/lib_prog.htm)
    • National Organization for Rare Disorders (http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/130/viewAbstract)
    • Progeria Research Foundation, Inc. (http://www.progeriaresearch.org/)
    • Resource list from the University of Kansas Medical Center (http://www.kumc.edu/gec/support/progeria.html)

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

  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1121/)

  • Genetic Testing Registry - Repository of genetic test information

    • Genetic Testing Registry: Hutchinson-Gilford syndrome (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0033300)
  • ClinicalTrials.gov - Linking patients to medical research (http://clinicaltrials.gov/ct2/results?cond=%22hutchinson-gilford%20progeria%20syndrome%22)
  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=(Progeria%5BMAJR%5D)%20AND%20(Hutchinson-Gilford%20progeria%20syndrome%5BTIAB%5D)%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/176670)

What other names do people use for Hutchinson-Gilford progeria syndrome?

  • HGPS
  • Hutchinson-Gilford Syndrome
  • Progeria
  • Progeria of childhood

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about Hutchinson-Gilford progeria syndrome?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding Hutchinson-Gilford progeria syndrome?

alopecia ; arteries ; arteriosclerosis ; autosomal ; autosomal dominant ; cell ; failure to thrive ; gene ; heart attack ; joint ; lamin ; motor ; nuclear envelope ; nucleus ; protein ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • De Sandre-Giovannoli A, Bernard R, Cau P, Navarro C, Amiel J, Boccaccio I, Lyonnet S, Stewart CL, Munnich A, Le Merrer M, Lévy N. Lamin a truncation in Hutchinson-Gilford progeria. Science. 2003 Jun 27;300(5628):2055. Epub 2003 Apr 17. (http://www.ncbi.nlm.nih.gov/pubmed/12702809?dopt=Abstract)
  • Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature. 2003 May 15;423(6937):293-8. Epub 2003 Apr 25. (http://www.ncbi.nlm.nih.gov/pubmed/12714972?dopt=Abstract)
  • Gene Review: Hutchinson-Gilford Progeria Syndrome (http://www.ncbi.nlm.nih.gov/books/NBK1121/)
  • Goldman RD, Shumaker DK, Erdos MR, Eriksson M, Goldman AE, Gordon LB, Gruenbaum Y, Khuon S, Mendez M, Varga R, Collins FS. Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome. Proc Natl Acad Sci U S A. 2004 Jun 15;101(24):8963-8. Epub 2004 Jun 7. (http://www.ncbi.nlm.nih.gov/pubmed/15184648?dopt=Abstract)
  • Halaschek-Wiener J, Brooks-Wilson A. Progeria of stem cells: stem cell exhaustion in Hutchinson-Gilford progeria syndrome. J Gerontol A Biol Sci Med Sci. 2007 Jan;62(1):3-8. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17301031?dopt=Abstract)
  • Hennekam RC. Hutchinson-Gilford progeria syndrome: review of the phenotype. Am J Med Genet A. 2006 Dec 1;140(23):2603-24. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16838330?dopt=Abstract)
  • Pollex RL, Hegele RA. Hutchinson-Gilford progeria syndrome. Clin Genet. 2004 Nov;66(5):375-81. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15479179?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: July 2007
Published: May 20, 2013