Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease.

ABSTRACT:

Background

Hirschsprung Disease (HSCR) is a congenital defect of the intestinal innervations characterized by complex inheritance. Many susceptibility genes including RET, the major HSCR gene, and several linked regions and associated loci have been shown to contribute to disease pathogenesis. Nonetheless, a proportion of patients still remains unexplained. Copy Number Variations (CNVs) have already been involved in HSCR, and for this reason we performed Comparative Genomic Hybridization (CGH), using a custom array with high density probes.

Results

A total of 20 HSCR candidate regions/genes was tested in 55 sporadic patients and four patients with already known chromosomal aberrations. Among 83 calls, 12 variants were experimentally validated, three of which involving the HS

SUBMITTER: Lantieri F 

PROVIDER: S-EPMC6878652 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature