Child With HGPS   |   Courtesy of Rex Features Hutchinson-Gilford Progeria Syndrome
 

Genetic Counseling


Inheritance:

The most common mutation in Hutchinson-Gilford progeria syndrome (HGPS) is caused by a de novo dominant mutation on a paternal inherited allele. There has been one case reported of a somatic mosaicism in an asymptomatic mother carrying the G608G mutation.

  • Affected children’s parents are not affected.
  • Does not increase the risk for other siblings or family members.
    • Current record have only indicated two sets of identical twins with HGPS.
    • Families with more than one sibling with classic HGPS are extremely rare.
  • Individuals with HGPS do not reproduce.
  • Strong evidence indicate that only one mutated allele is required to cause the disease.
    • Compound heterozygous mutations have also been reported, which may result in atypical HGPS

Copyright 2008 J. Hu