Article
Genome-wide methylomic analysis in individuals with HNF1B intragenic mutation and 17q12 microdeletion.
Clinical epigenetics - 18 Jul 2018
Clissold Rhian L, Ashfield Beth, Burrage Joe, Hannon Eilis, Bingham Coralie, Mill Jonathan, Hattersley Andrew, Dempster Emma L
Abstract excerpt
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...
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