Maternal Uniparental Disomy 14 (UPD14) Identified by Clinical Exome Sequencing in an Adolescent with Diverticulosis

Pediatric diverticular disease is extremely rare, with most cases associated with connective tissue disorders. We report an adolescent boy with syndromic features who presented with acute complicated sigmoid diverticulitis. Clinical exome sequencing analysis detected a 6.5-Mb region of homozygosity on chromosome 14, consistent with partial maternal uniparental disomy. Analysis of this region did not identify rare homozygous variants but included several imprinted genes that were candidates for the observed phenotypes. The pediatric clinical presentation of diverticulosis in this patient has not been previously described in maternal uniparental disomy of chromosome 14 and adds to the phenotypic spectrum of the syndrome.