Hutchinson-Gilford Progeria Syndrome

What is Hutchinson-Gilford progeria syndrome?

Hutchinson-Gilford progeria syndrome is a genetic condition characterised by the dramatic, rapid appearance of aging beginning in childhood. Affected children typically look normal at birth and in early infancy, but then grow more slowly than other children and develop a characteristic facial appearance, hair loss (alopecia), aged-looking skin, and severe hardening of the arteries (atherosclerosis).

How common is Hutchinson-Gilford progeria syndrome?

This condition is very rare; it is reported to affect 1 in 8 million newborns worldwide. More than 100 cases have been reported in the scientific literature since the condition was first described in 1886.

What genes are related to Hutchinson-Gilford progeria syndrome?

Mutations in the LMNA gene cause Hutchinson-Gilford progeria syndrome.

The LMNA gene makes a protein called lamin A. This protein is an essential scaffolding (supporting) component of a membrane called the nuclear envelope, which surrounds the nucleus in cells. Mutations that cause Hutchinson-Gilford progeria syndrome disrupt the normal production of the lamin A protein. The altered protein makes the nuclear envelope unstable and progressively damages the structure and function of the nucleus. Researchers have not determined how these changes lead to the characteristic features of Hutchinson-Gilford progeria syndrome.

How do people inherit Hutchinson-Gilford progeria syndrome?

Hutchinson-Gilford progeria syndrome is considered an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. The condition results from new mutations in the LMNA gene, and almost always occurs in people with no history of the disorder in their family.

What other names do people use for Hutchinson-Gilford progeria syndrome?

• HGPS
• Hutchinson-Gilford Syndrome
• Progeria
• Progeria of childhood