What genetic abnormality is responsible for the progeria?
HGPS is caused by a mutation in the gene called LMNA.The LMNA gene produces the lamin A protein which is the structural scaffolding that holds the nucleus of a cell together. The abnormal lamin A protein that causes Progeria is called progerin. Progerin makes the nucleus unstable.
On to which chromosome/s has the genetic abnormality been mapped?
The abnormal lamin A protein that causes Progeria is called progerin. Progerin makes the nucleus unstable. That cellular instability leads to the process of premature aging and disease in Progeria.
Slowed growth, with below-average height and weight
Narrowed face, small lower jaw, thin lips and beaked nose
Head disproportionately large for face
Prominent eyes and incomplete closure of the eyelids
Hair loss, including eyelashes and eyebrows
Thinning, spotty, wrinkled skin
Signs and symptoms also include health issues:
Hardening and tightening of skin on trunk and extremities (similar to scleroderma)
Delayed and abnormal tooth formation
Some hearing loss
Loss of fat under the skin and loss of muscle mass
Severe progressive heart and blood vessel (cardiovascular) disease
How was progeria disorder diagnosed?
A genetic test for Hutchinson-Gilford progeria syndrome, also called HGPS, is currently available. In the past, doctors had to base a diagnosis of progeria solely on physical symptoms, such as skin changes and a failure to gain weight, that were not fully apparent until a child's first or second year of life.