Skip to main content
Create interactive lessons using any digital content including wikis with our free sister product
. Get it on the
Pages and Files
Alpha 1-antitrypsin deficiency
Autism and Aspergers Syndrome
Benign Infantile Epilepsy
Cri du chat
Duchenne Muscular Dystrophy
Add "All Pages"
PAIGE AND CATEE AND TSIM
Nature of the Genetic Difficulty
Hutchinson-Gilford Progeria Syndrome ("Progeria", or "HGPS") is a rare, fatal genetic condition characterized by an appearance of accelerated aging in children. HGPS is caused by a point mutation in the LMNA gene. The LMNA gene produces the Lamin A protein, which holds the nucleus of a cell together. Researchers now believe that the defective Lamin A protein makes the nucleus unstable. That cellular instability appears to lead to the process of premature aging in Progeria. HGPS is a “sporadic autosomal dominant” mutation – sporadic because it is a new change in that family, and dominant because only one copy of the gene needs to be changed in order to have the syndrome. Those with progeria rarely live to reproductive age, the disease only survives because the mutation is sporadic.
Basis Facts of Disease
The signs include:
Insulin-resistant diabetes (diabetes that does not respond readily to insulin injections)
Skin changes similar to that seen in scleroderma (the connective tissue becomes tough and hardened)
Cardiac stress testing may reveal signs of early atherosclerosis of blood vessels.
Genetic testing can detect mutations in lamin A that cause progeria.
Growth failure during the first year of life
Narrow, shrunken or wrinkled face
Loss of eyebrows and eyelashes
Large head for size of face (macrocephaly)
Open soft spot (fontanelle)
Small jaw (micrognathia)
Dry, scaly, thin skin
Limited range of motion
Teeth - delayed or absent formation
There are currently no known treatment for progeria, however, scientists have discovered the gene that causes it. This has lead to clinical drug trials that show lots of promise for treating progeria in the near future. Children with Progeria are born looking normal and they begin to display many characteristics of accelerated aging at around 18-24 months of age. Progeria signs include growth failure, loss of body fat and hair, aged-looking skin, stiffness of joints, hip dislocation, generalized atherosclerosis, cardiovascular disease and stroke. The children have a remarkably similar appearance, despite differing ethnic background. Children with Progeria typically die of atherosclerosis or other cardiovascular related issues at about thirteen years of age, with a range of about 8 - 21 years.
Retrieved from "
help on how to format text
Turn off "Getting Started"