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Multiple transmissions of de novo mutations in families.

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Authors
Jónsson, Hákon
Sulem, Patrick
Arnadottir, Gudny A
Pálsson, Gunnar
Eggertsson, Hannes P
Kristmundsdottir, Snaedis
Zink, Florian
Kehr, Birte
Hjorleifsson, Kristjan E
Jensson, Brynjar Ö
Jonsdottir, Ingileif
Marelsson, Sigurdur Einar
Gudjonsson, Sigurjon Axel
Gylfason, Arnaldur
Jonasdottir, Adalbjorg
Jonasdottir, Aslaug
Stacey, Simon N
Magnusson, Olafur Th
Thorsteinsdottir, Unnur
Masson, Gisli
Kong, Augustine
Halldorsson, Bjarni V
Helgason, Agnar
Gudbjartsson, Daniel F
Stefansson, Kari
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Issue Date
2018-12-01

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Citation
Multiple transmissions of de novo mutations in families. 2018, 50(12):1674-1680 Nat Genet
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.
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https://www.nature.com/articles/s41588-018-0259-9
ae974a485f413a2113503eed53cd6c53
10.1038/s41588-018-0259-9
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English Journal Articles (Peer Reviewed)

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