Whole-exome sequencing identifies a potential TTN mutation in a multiplex family with inguinal hernia.

ABSTRACT:

Purpose

Inguinal hernia repair is one of the most common procedures in general surgery. Males are seven times more likely than females to develop a hernia and have a 27 % lifetime 'risk' of inguinal hernia repair. Several studies have demonstrated that a positive family history is an important risk factor for the development of primary inguinal hernia, which indicates that genetic factors may play important roles in the etiology of the disease. So far, the contribution of genetic factors and underlying mechanisms for inguinal hernia remain largely unknown. The aim of this study was to investigate a multiplex Estonian family with inguinal hernia across four generations.

Methods

The whole-exome sequencing was carried out in three affected family members and subsequent mutation

SUBMITTER: Mihailov E 

PROVIDER: S-EPMC5281683 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature