Effect of semaphorin 3C gene variants in multifactorial Hirschsprung disease.

ABSTRACT:

Objective

Cluster genes, specifically the class 3 semaphorins (SEMA3) including SEMA3C, have been associated with the development of Hirschsprung disease (HSCR) in Caucasian populations. We aimed to screen for rare and common variants in SEMA3C in Indonesian patients with HSCR.

Methods

In this prospective clinical study, we analyzed SEMA3C gene variants in 55 patients with HSCR through DNA sequencing and bioinformatics analyses.

Results

Two variants in SEMA3C were found: p.Val337Met (rs1527482) and p.Val579 =  (rs2272351). The rare variant rs1527482 (A) was significantly overrepresented in our HSCR patients (9.1%) compared with South Asian controls in the 1000 Genomes (4.7%) and Exome Aggregation Consortium (ExAC; 3.5%) databases. Ou

SUBMITTER: Gunadi 

PROVIDER: S-EPMC7876767 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature