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The gene responsible for HGPS is called LMNA (pronounced âlamin-aâ). Within this gene there is a change in one piece of DNA that is responsible for Progeria. This type of gene change is called a point mutation. The LMNA gene makes a protein called Lamin A, which is an important protein for most cells of our bodies. Lamin A is found in the cell nucleus (the part of each cell that contains the DNA), and helps maintain the shape and function of the cell. The point mutation compromises that cell integrity, causing Progeria.
Progeria (pro-JEER-e-uh), also known as Hutchinson-Gilford syndrome, is an extremely rare, progressive genetic disorder that causes children to age rapidly, beginning in their first two years of life.