De novo Mutations and the Lack of Heritability in Birth Defects

Dear Colleagues,

The prevention and treatment of major birth defects are key concerns for child health. About 25% of all pediatric deaths and about one-third of all pediatric hospital admissions are associated with birth defects. Many birth defects are associated with lifelong physical and psychosocial impairments affecting both the child and their family. For the majority of defects, the underlying cause remains unknown, but is thought to be likely heterogeneous.

The implicated mortality and/or reduced fecundity in many major birth defects suggest a significant fraction of mutational de novo events among the affected individuals. The experience in medical genetics suggests that these mutational de novo events will comprise genomic alterations of different size ranging from small changes affecting single nucleotides to large alterations resulting in losses or gains of several thousand to millions of base pairs.

The availability of large-scale array-based copy number variation analysis and exome sequencing has enabled researchers to systematically investigate large patient cohorts, allowing for the identification of mutational de novo events. However, the interpretation of these de novo events in regards to their clinical significance remains difficult for many reasons.

In this Special Issue, we aim to revisit the genetic advancements over the past decade. We further aim to discuss the use of public databases and in silico prediction tools to characterize (single nucleotid) de novo variants, and the necessity for functional characterization of de novo variants.

Dr. Heiko Reutter
Dr. Alina Hilger
Guest Editors

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