作者
Matthias Begemann, Faisal I Rezwan, Jasmin Beygo, Louise E Docherty, Julia Kolarova, Christopher Schroeder, Karin Buiting, Kamal Chokkalingam, Franziska Degenhardt, Emma L Wakeling, Stephanie Kleinle, Daniela González Fassrainer, Barbara Oehl-Jaschkowitz, Claire LS Turner, Michal Patalan, Maria Gizewska, Gerhard Binder, Can Thi Bich Ngoc, Vu Chi Dung, Sarju G Mehta, Gareth Baynam, Julian P Hamilton-Shield, Sara Aljareh, Oluwakemi Lokulo-Sodipe, Rachel Horton, Reiner Siebert, Miriam Elbracht, Isabel Karen Temple, Thomas Eggermann, Deborah JG Mackay
发表日期
2018/7/1
期刊
Journal of Medical Genetics
卷号
55
期号
7
页码范围
497-504
出版商
BMJ Publishing Group Ltd
简介
Background
Genomic imprinting results from the resistance of germline epigenetic marks to reprogramming in the early embryo for a small number of mammalian genes. Genetic, epigenetic or environmental insults that prevent imprints from evading reprogramming may result in imprinting disorders, which impact growth, development, behaviour and metabolism. We aimed to identify genetic defects causing imprinting disorders by whole-exome sequencing in families with one or more members affected by multilocus imprinting disturbance.
Methods
Whole-exome sequencing was performed in 38 pedigrees where probands had multilocus imprinting disturbance, in five of whom maternal variants in NLRP5 have previously been found.
Results
We now report 15 further pedigrees in which offspring had disturbance of imprinting, while their mothers had rare, predicted-deleterious variants in maternal effect genes …
学术搜索中的文章
M Begemann, FI Rezwan, J Beygo, LE Docherty… - Journal of Medical Genetics, 2018