Nestor-Guillermo progeria syndrome

Nestor-Guillermo progeria syndrome (NGPS) is a rare genetic disorder characterized by premature aging. It is named after the two scientists, Nestor and Guillermo, who first described the condition. NGPS is similar to Hutchinson-Gilford progeria syndrome (HGPS), but it has a later onset and slower progression.

Symptoms

The symptoms of NGPS typically begin in early childhood and may include alopecia (hair loss), atherosclerosis (hardening of the arteries), osteoporosis (loss of bone density), and cardiovascular disease. Individuals with NGPS may also exhibit a distinctive facial appearance, including a beaked nose, thin lips, and protruding ears.

Genetics

NGPS is caused by mutations in the BANF1 gene. This gene provides instructions for making a protein that is involved in the organization of the nucleus in cells. The BANF1 gene mutations that cause NGPS lead to the production of an abnormally small, dysfunctional protein. The altered protein disrupts the structure of the nucleus, which may contribute to the premature aging observed in NGPS.

Diagnosis

Diagnosis of NGPS is based on clinical features and confirmed by genetic testing. This involves sequencing the BANF1 gene to identify any mutations.

Treatment

There is currently no cure for NGPS. Treatment is symptomatic and supportive, and may include medications to manage cardiovascular disease and osteoporosis, as well as physical therapy to maintain mobility.

Prognosis

The prognosis for individuals with NGPS varies. Some individuals may have a near-normal lifespan with slow disease progression, while others may experience more rapid progression and serious complications such as heart disease.

See also

• Progeria
• Genetic disorder
• BANF1

NIH genetic and rare disease info

• NIH info on Nestor-Guillermo progeria syndrome

Nestor-Guillermo progeria syndrome is a rare disease.

Nestor-Guillermo progeria syndrome Resources
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