Is progeria passed down from parent to child?

Unlike many genetic mutations, progeria is rarely passed down in families. The gene mutation is a rare, chance occurrence in the majority of cases.

What phenotype does progeria cause?

The progeria-related phenotypes associated with so-called non-classical mutations are frequently described as progeroid laminopathies, atypical progeroid syndromes, or MADA [4,5]. They are autosomal dominant or recessive.

How is the family of a person with progeria affected?

Progerin builds up in many cells of child’s with Progeria, causing them to grow old quickly. Progeria is not inherited, or passed down in families. When child get older, they get disease seen in adults age 50 and older such as bone loss, atherosclerosis, heart disease and stroke.

What chromosome is progeria on?

Progeria is due to a single-letter “misspelling” in a gene on chromosome 1 that codes for lamin A, a protein that is a key component of the membrane surrounding the cell’s nucleus.

What are the chances of having a child with progeria?

However, 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. For parents who have never had a child with Progeria, the chances of having a child with Progeria are 1 in 4 million.

What is the name of the gene that causes progeria?

The gene responsible for HGPS is called LMNA (pronounced “lamin-a”). One tiny spelling mistake in the DNA sequence of LMNA is responsible for Progeria. This type of gene change is called a point mutation. The LMNA gene normally makes a protein called lamin A, which is an important protein for most cells of our bodies.

Is there a genetic testing program for progeria?

Now that the gene mutation has been identified, The Progeria Research Foundation has a Diagnostic Testing Program. We can now look at the specific genetic change, or mutation, in the Progeria gene that leads to HGPS.

How are classical progeria and laminopathies related?

Classical Progeria is caused by a particular genetic change in a particular location on the LMNA gene. Therefore, when we are searching only for classical Progeria, we test one section of the LMNA gene, and not the entire gene. There are other closely related genetic diseases that are called “progeroid laminopathies” or “progeroid syndromes”.

However, 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. For parents who have never had a child with Progeria, the chances of having a child with Progeria are 1 in 4 million.

What do we know about heredity and progeria?

Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging. What do we know about heredity and progeria? Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging.

How is the LMNA gene related to progeria?

In laboratory tests involving cells taken from progeria patients, researchers have found that the mutation responsible for Hutchinson-Gilford progeria causes the LMNA gene to produce an abnormal form of the lamin A protein.

Where does the name progeria syndrome come from?

Hutchinson-Gilford Progeria Syndrome (“Progeria”, or “HGPS”) is a rare, fatal genetic condition characterized by an appearance of accelerated aging in children. Its name is derived from the Greek and means “prematurely old.”