Table 1.

Telomere erosion and human disease

	Telomerase mutations as genetic determinants	Telomerase mutations as genetic risk factors
Characteristics	High penetrance	Low penetrance
	Childhood onset disease	Adult onset disease
	Congenital clinical manifestations	Single or multiple organs
Disease	Dyskeratosis congenita	Aplastic anemia
		Lung fibrosis
		Liver cirrhosis
		Telomere syndromes

Telomerase mutations may be highly penetrant causing congenital clinical manifestations as in dyskeratosis congenita or may be less penetrant and manifest in adult life inducing single or multiple organ damage[7].