2024
DOI: 10.21203/rs.3.rs-4874550/v1
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Parental germline mosaicism in genome-wide phased de novo variants: recurrence risk assessment and implications for precision genetic counselling

François Lecoquierre,
Nathalie Drouot,
Sophie Coutant
et al.

Abstract: Background: De novo mutations (DNMs) significantly impact health, particularly through developmental disorders. DNMs occur in both paternal and maternal germlines via diverse mechanisms including parental early embryonic mosaicism, which increases recurrence risk for future pregnancies through germline mosaicism. Embryonic mosaicism is divided based on primordial germ cell specification (PGCS): pre-PGCS events may affect both germline and somatic tissues, while post-PGCS events are only found in the germline… Show more

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