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

16 Jun 2016

Abstract excerpt

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:...

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PMID: 27468422
DOI: 10.1002/mgg3.222

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