Progeria overview
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Progeria overview On the Web |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]
Overview
Historical Perspective
Hutchinson-Gilford progeria syndrome or progeria was first discovered by DeBusk and the name was given by Hastings Gilford. Dyck et al reported a patient who had progeria and underwent coronary artery bypass surgery and percutaneous transluminal angioplasty.De Paula Rodrigues et al described the involvement of bones and joints in progeria patients. The word progeria is of greek origin which means prematurely old.
Classification
Progeria may be classified according to genotype into two groups: Classic progeria and atypical progeria.
Pathophysiology
It is thought that Hutchinson-Gilford progeria is due to mutation in LMNA gene.
Causes
The most common cause of Hutchinson-Gilford progeria syndrome (HGPS) is mutation in LMNA gene.