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