Genome-wide methylomic analysis in individuals with HNF1B intragenic mutation and 17q12 microdeletion.

Clinical Epigenetics
Rhian L ClissoldEmma Dempster

Abstract

Heterozygous mutation of the transcription factor HNF1B is the most common cause of monogenetic developmental renal disease. Disease-associated mutations fall into two categories: HNF1B intragenic mutations and a 1.3 Mb deletion at chromosome 17q12. An increase in neurodevelopmental disorders has been observed in individuals harbouring the 17q12 deletion but not in patients with HNF1B coding mutations.Previous investigations have concentrated on identifying a genetic cause for the increase in behavioural problems seen in 17q12 deletion carriers. We have taken the alternative approach of investigating the DNA methylation profile of these two HNF1B genotype groups along with controls matched for age, gender and diabetes status using the Illumina 450K DNA methylation array (total sample n = 60).We identified a number of differentially methylated probes (DMPs) that were associated with HNF1B-associated disease and passed our stringent experiment-wide significance threshold. These associations were largely driven by the deletion patients and the majority of the significant probes mapped to the 17q12 deletion locus. The observed changes in DNA methylation at this locus were not randomly dispersed and occurred in clusters, suggesting ...Continue Reading

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Citations

Sep 5, 2019·European Journal of Human Genetics : EJHG·Fanny LalièveVincent Guigonis
Sep 26, 2019·Frontiers in Genetics·Kerry AndersonAmy Jayne McKnight
Aug 19, 2020·Nature Reviews. Nephrology·Emily E GroopmanAli G Gharavi
Mar 9, 2021·Taiwanese Journal of Obstetrics & Gynecology·Chun-Xiang ZhouJie Li
Jan 19, 2022·Journal of Investigative Medicine High Impact Case Reports·Clara Si Hua TanSu Chi Lim

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Methods Mentioned

BETA
PCR

Software Mentioned

CHAMP
wateRmelon
comb
Illumina Genome Studio
Epigenetic Clock
minfi
methylumi
R

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