NRG1 variant effects in patients with Hirschsprung disease.

ABSTRACT:

Background

Hirschsprung disease (HSCR) is a heterogeneous genetic disorder characterized by absence of ganglion cells along the intestines resulting in functional bowel obstruction. Mutations in neuregulin 1 (NRG1) gene have been implicated in some cases of intestinal aganglionosis. This study aims to investigate the contribution of the NRG1 gene to HSCR development in an Indonesian population.

Methods

We analyzed the entire coding region of the NRG1 gene in 54 histopathologically diagnosed HSCR patients.

Results

All patients were sporadic non-syndromic HSCR with 53/54 (98%) short-segment and 1/54 (2%) long-segment patients. NRG1 gene analysis identified one rare variant, c.397G > C (p.V133 L), and three common variants, rs7834206, rs3735774, and rs75155858. The p.V13

SUBMITTER: Gunadi 

PROVIDER: S-EPMC6123906 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature