Pathogenic copy number variants are detected in a subset of patients with gastrointestinal malformations

Johanna Winberg 1 2Peter Gustavsson 1 2Ellika Sahlin 1 2Magnus Larsson 3 4Henrik Ehrén 3 4Magdalena Fossum 3 4Tomas Wester 3 4Ann Nordgren 1 2Agneta Nordenskjöld 3 4

Abstract

Background: Gastrointestinal atresias and urological defects are main causes of pediatric surgery in infants. As copy number variants (CNVs) have been shown to be involved in the development of congenital malformations, the aim of our study was to investigate the presence of CNVs in patients with gastrointestinal and urological malformations as well as the possibility of tissue-specific mosaicism for CNVs in the cohort.

Methods: We have collected tissue and/or blood samples from 25 patients with anorectal malformations, esophageal atresia, or hydronephrosis, and screened for pathogenic CNVs using array comparative genomic hybridization (array-CGH).

Results: We detected pathogenic aberrations in 2/25 patients (8%) and report a novel possible susceptibility region for esophageal atresia on 15q26.3. CNV analysis in different tissues from the same patients did not reveal evidence of tissue-specific mosaicism.

Conclusion: Our study shows that it is important to perform clinical genetic investigations, including CNV analysis, in patients with congenital gastrointestinal malformations since this leads to improved information to families as well as an increased understanding of the pathogenesis.

Keywords: anorectal malformations; array-CGH; copy number variation; esophageal atresia; hydronephrosis; mosaicism.

Read full abstract in PDF

Related Posts

Consistent, convergent pathways link two forms of autism

Consistent, convergent pathways link two forms of autism

Consistent, convergent pathways link two forms of autism BY ANGIE VOYLES ASKHAM  /  15 NOVEMBER 2022 / https://doi.org/10.53053/OWUW9177 The brains of people with a duplication of the 15q11-13 chromosomal region have dysregulated gene expression, particularly in...

Cannabis-based magistral formulation…

Cannabis-based magistral formulation…

Cannabis-based magistral formulation is highly effective as an adjuvant treatment in drug-resistant focal epilepsy in adult patients: an open-label prospective cohort study Cristian Eduardo Navarro  Neurological Sciences (2022) Cite this article Original Article -...