Hutchinson-Gilford Progeria syndrome (HGPS)

What is Hutchinson-Gilford Progeria syndrome (HGPS)?

This rare disease is a fatal genetic condition named for the doctors who first identified it, in 1886 and 1897 respectively.

The syndrome triggers accelerated ageing in those affected. Heart disease is also a serious and common complication of the rare disease.

What gene changes cause Hutchinson-Gilford Progeria syndrome (HGPS)?

Mutations on the LMNA, POLR3A and BANF1 genes are responsible for the syndrome.

These genes produce Lamin A, now known to be what holds the nucleus of a cell together. A mutation in the genes leads to a lack of Lamin A, which creates an unstable nucleus and triggers premature ageing.

In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.

In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.

What are the main symptoms of Hutchinson-Gilford Progeria syndrome (HGPS)?

Symptoms of premature ageing generally occur in the first two years of an affected individuals life. These symptoms include, slowed growth, a loss of body fat and hair, hip dislocations, an increased stiffness in the joints as well as the more serious medical conditions of heart disease and stroke.

The condition is fatal, and expected life expectancy for someone with the syndrome is just 14 years. Heart disease is the leading cause of death for someone with this condition.

How does someone get tested for Hutchinson-Gilford Progeria syndrome (HGPS)?

The initial testing for Hutchinson-Gilford Progeria syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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