The effect of parental age on the presence of de novo mutations - Lessons from neurofibromatosis type I.

ABSTRACT:

Background

Neurofibromatosis type 1 (NF1) is the most common autosomal dominant neurocutaneous disease with a prevalence of 1:2500. Approximately, 50% of the cases are sporadic. Advanced paternal age is associated with germline mutations and autosomal diseases. We aimed to use NF1 as a paradigm to study the effect of parental age on sporadic mutation rates for both advanced and younger parental ages.

Methods

The medical charts of 118 NF1 pediatric patients followed in a specialized Israeli NF1 clinic were evaluated. Thirty-one cases were diagnosed by genetic tests and 87 by NIH clinical criteria. Sixty-four cases (54%) had a negative family history of NF1 (sporadic cases). Data on parental ages at the time of the children's birth were compared to the national population data

SUBMITTER: Dubov T 

PROVIDER: S-EPMC4947867 | biostudies-literature | 2016 Jul

REPOSITORIES: biostudies-literature