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

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 = 6

SUBMITTER: Clissold RL 

PROVIDER: S-EPMC6052548 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature