Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation.

ABSTRACT:

Background

Intestinal malrotation is a potentially life-threatening congenital anomaly due to the risk of developing midgut volvulus. The reported incidence is 0.2%-1% and both apparently hereditary and sporadic cases have been reported. Intestinal malrotation is associated with a few syndromes with known genotype but the genetic contribution in isolated intestinal malrotation has not yet been reported. Rare copy number variants (CNVs) have been implicated in many congenital anomalies, and hence we sought to investigate the potential contribution of rare CNVs in intestinal malrotation.

Methods

Analysis of array comparative genomic hybridization (aCGH) data from 47 patients with symptomatic intestinal malrotation was performed.

Results

We identified six rare CNVs in fi

SUBMITTER: Salehi Karlslatt K 

PROVIDER: S-EPMC6418355 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature