Page 27 - PCC08

Somatic cell lines
Male Germline
Female Germline
Page 21 of 102
De novo mutations in human disease context depends on:
‐ Gene it occurs in
‘Background de novo mutation’ Known/novel disease gene
‐ Timing of mutations
Pre‐ or postzygotic Somatic
‐ Age of parents at time of conception
Old fathers vs. young fathers Old mothers vs. young mothers
Adapted from: Acuna‐Hidalgo et al. Gen Biol 2016
De novo mutations and male infertility
• Infertility frequent, affecting nearly 7 % of all couples
• Many genes known to play a role in reproduction
• De novo mutations are a known cause of male infertility!
‐ De novo chromosome abnormality: Klinefelter syndrome XXY ‐ De novo deletions of AZF region on chromosome Y
• Little known on dominant causes by (de novo) point mutations
http://www.imigc.org/
Lead: Prof. dr. ir. J.A. Veltman
PRECONGRESS COURSE 08 I BARCELONA, SPAIN – 1 JULY 2018 27