Molecular Genetic Anatomy and Risk Profile of Hirschsprung's Disease.

ABSTRACT:

Background

Hirschsprung's disease, or congenital aganglionosis, is a developmental disorder of the enteric nervous system and is the most common cause of intestinal obstruction in neonates and infants. The disease has more than 80% heritability, including significant associations with rare and common sequence variants in genes related to the enteric nervous system, as well as with monogenic and chromosomal syndromes.

Methods

We genotyped and exome-sequenced samples from 190 patients with Hirschsprung's disease to quantify the genetic burden in patients with this condition. DNA sequence variants, large copy-number variants, and karyotype variants in probands were considered to be pathogenic when they were significantly associated with Hirschsprung's disease or another neurode

SUBMITTER: Tilghman JM 

PROVIDER: S-EPMC6596298 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature