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

Alvin P Chan; Milene Mulatinho; Paul Iskander; Hane Lee; Julian A Martinez-Agosto; Joanna Yeh

doi:10.14309/crj.0000000000000021

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

ACG Case Rep J. 2019 Mar 29;6(3):1-3. doi: 10.14309/crj.0000000000000021. eCollection 2019 Mar.

Authors

Alvin P Chan¹, Milene Mulatinho², Paul Iskander³, Hane Lee², Julian A Martinez-Agosto^{4

5}, Joanna Yeh¹

Affiliations

¹ Division of Pediatric Gastroenterology, Department of Pediatrics, University of California, Los Angeles, Los Angeles, CA.
² Department of Pathology and Laboratory Medicine, University of California, Los Angeles, Los Angeles, CA.
³ Department of Radiology, University of California, Los Angeles, Los Angeles, CA.
⁴ Division of Medical Genetics, Department of Pediatrics, University of California, Los Angeles, Los Angeles, CA.
⁵ Department of Human Genetics, University of California, Los Angeles, Los Angeles, CA.

Abstract

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.

Publication types

Case Reports