Thomas W Laver, Matthew N Wakeling, Richard C Caswell, Benjamin Bunce, Daphne Yau, Jonna M E Männistö, Jayne A L Houghton, Jasmin J Hopkins, Michael N Weedon, Vrinda Saraff, Melanie Kershaw, Engela M Honey, Nuala Murphy, Dinesh Giri, Stuart Nath, Ana Tangari Saredo, Indraneel Banerjee, Khalid Hussain, Nick D L Owens, Sarah E Flanagan
Persistent congenital hyperinsulinism (HI) is a rare genetically heterogeneous condition characterised by dysregulated insulin secretion leading to life-threatening hypoglycaemia. For up to 50% of affected individuals screening of the known HI genes does not identify a disease-causing variant. Large deletions have previously been used to identify novel regulatory regions causing HI. Here, we used genome sequencing to search for novel large (>1 Mb) deletions in 180 probands with HI of unknown cause and replicated our findings in a large cohort of 883 genetically unsolved individuals with HI using off-target copy number variant calling from targeted gene panels...
April 11, 2024: European Journal of Human Genetics: EJHG