Hutchinson-gilford progeria syndrome

Causes

What is the genetic cause for Hutchinson-Gilford Progeria syndrome?

Hutchinson-Gilford Progeria syndrome (progeria) is caused by a genetic mutation in the LMNA gene. The LMNA gene codes for a protein called lamin A, which has an important role in maintaining the shape and integrity of cells in the body. The altered proteins in progeria cause damage to all cells in the body.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/hutchinson-gilford-progeria-syndrome/causes/6098 • DATE UPDATED: 2016-06-15

References

Gordon LB, Brown WT, Collins FS. Hutchinson-Gilford Progeria Syndrome. 2003 Dec 12 [Updated 2015 Jan 8]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.

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