The importance of advanced parental age in the origin of neurofibromatosis type 1

Abstrakt

Von Recklinghausen neurofibromatosis (NF1) is an autosomal dominant disorder with a prevalence about 1/3,000 (1/2,0001/5,000 in various population-based studies). About 3050% of cases are sporadic, resulting from a new mutation, NF1 is fully penetrant by mid-childhood, stigmata, and medical problems (neurological, dermatological, endocrine, ophthalmological, oncological) are highly variable, Advanced paternal age (APA) has been known to increase the risk of new germline mutations that contribute to the presence of a variety of genetic diseases in the human population.

Klíčová slova

• parental age
• advanced paternal age
• advanced maternal age
• neurofibromatosis type 1
• sporadic cases
• advanced paternal age
• nf1 gene
• mutation-rate
• vonrecklinghausen neurofibromatosis