Multiple transmissions of de novo mutations in families View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2018-11-05

AUTHORS

Hákon Jónsson, Patrick Sulem, Gudny A. Arnadottir, Gunnar Pálsson, Hannes P. Eggertsson, Snaedis Kristmundsdottir, Florian Zink, Birte Kehr, Kristjan E. Hjorleifsson, Brynjar Ö. Jensson, Ingileif Jonsdottir, Sigurdur Einar Marelsson, Sigurjon Axel Gudjonsson, Arnaldur Gylfason, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Simon N. Stacey, Olafur Th. Magnusson, Unnur Thorsteinsdottir, Gisli Masson, Augustine Kong, Bjarni V. Halldorsson, Agnar Helgason, Daniel F. Gudbjartsson, Kari Stefansson

ABSTRACT

De novo mutations (DNMs) cause a large proportion of severe rare diseases of childhood. DNMs that occur early may result in mosaicism of both somatic and germ cells. Such early mutations can cause recurrence of disease. We scanned 1,007 sibling pairs from 251 families and identified 878 DNMs shared by siblings (ssDNMs) at 448 genomic sites. We estimated DNM recurrence probability based on parental mosaicism, sharing of DNMs among siblings, parent-of-origin, mutation type and genomic position. We detected 57.2% of ssDNMs in the parental blood. The recurrence probability of a DNM decreases by 2.27% per year for paternal DNMs and 1.78% per year for maternal DNMs. Maternal ssDNMs are more likely to be T>C mutations than paternal ssDNMs, and less likely to be C>T mutations. Depending on the properties of the DNM, the recurrence probability ranges from 0.011% to 28.5%. We have launched an online calculator to allow estimation of DNM recurrence probability for research purposes. More... »

PAGES

1-7

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/s41588-018-0259-9

    DOI

    http://dx.doi.org/10.1038/s41588-018-0259-9

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1107954796

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/30397338


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