Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome.

ABSTRACT: Background: Large contiguous gene deletions at the distal end of the short arm of chromosome 9 result in the complex multi-organ condition chromosome 9p deletion syndrome.  A range of clinical features can result from these deletions with the most common being facial dysmorphisms and neurological impairment. Congenital hyperinsulinism is a rarely reported feature of the syndrome with the genetic mechanism for the dysregulated insulin secretion being unknown.  Methods: We studied the clinical and genetic characteristics of 12 individuals with chromosome 9p deletions who had a history of neonatal hypoglycaemia. Using off-target reads generated from targeted next-generation sequencing of the genes known to cause hyperinsulinaemic hypoglycaemia (n=9), or microarray analysis (n=3)

SUBMITTER: Banerjee I 

PROVIDER: S-EPMC7422856 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature