Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same family.

European Journal of Human Genetics : EJHG
Thomas EggermannMiriam Elbracht

Abstract

The term multilocus imprinting disturbance (MLID) describes the aberrant methylation of multiple imprinted loci in the genome, and MLID occurs in patients suffering from imprinting disorder carrying methylation defects. First data indicate that functional variants in factors expressed from both the fetal as well as the maternal genome cause MLID. Molecular changes in such genes of the maternal genome are called maternal effect variants, they affect members of the subcortical maternal complex (SCMC) in the oocyte which plays an important role during early embryonic development. Whereas the contribution of variants in the SCMC genes NLRP2, NLRP5, NLRP7, and KHDC3L to the etiology of reproductive failure and aberrant imprinting is widely accepted, the involvement of PADI6 variants in the formation of MLID is in discussion. We now report on the identification of biallelic variants in a woman suffering from different miscarriages and giving birth to two children with MLID. Thereby the role of PADI6 in maintaining the proper imprinting status during early development is confirmed. Thus, PADI6 variants do not only cause (early) pregnancy losses, but maternal effect variants in this gene cause the same spectrum of pregnancy outcomes as...Continue Reading

References

Sep 2, 2015·Nature Communications·Louise E DochertyDeborah J G Mackay
May 29, 2016·Trends in Genetics : TIG·Marta Sanchez-DelgadoDavid Monk
Aug 23, 2016·American Journal of Human Genetics·Yao XuLei Wang
Jun 1, 2017·European Journal of Human Genetics : EJHG·Lukas SoellnerElisabeth Mangold
Sep 17, 2017·Reproduction : the Official Journal of the Society for the Study of Fertility·David MonkRosemary Fisher
Apr 26, 2018·European Journal of Human Genetics : EJHG·JianHua QianRima Slim
Jan 17, 2019·Nature Reviews. Genetics·David MonkAndrea Riccio
Jul 6, 2019·Journal of Assisted Reproduction and Genetics·Sarah M RobbinsAngie C Jelin
Oct 31, 2019·Journal of Assisted Reproduction and Genetics·Wei ZhengGe Lin
Feb 19, 2020·Human Reproduction Update·Miriam ElbrachtThomas Eggermann

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Citations

May 20, 2021·Prenatal Diagnosis·Ignatia B Van den Veyver
May 27, 2021·Journal of Assisted Reproduction and Genetics·Juan LiuShengwen Huang
Jul 24, 2021·Geburtshilfe und Frauenheilkunde·Thomas Eggermann

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Software Mentioned

Alamut Visual
SeqMule
KGGSeq
. Net
GATKLite
Coffalyser

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