Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants.

ABSTRACT:

Background

Oesophageal atresia (OA) is a life-threatening developmental defect characterized by a lost continuity between the upper and lower oesophagus. The most common form is a distal connection between the trachea and the oesophagus, i.e. a tracheoesophageal fistula (TEF). The condition may be part of a syndrome or occurs as an isolated feature. The recurrence risk in affected families is increased compared to the population-based incidence suggesting contributing genetic factors.

Methods

To gain insight into gene variants and genes associated with isolated OA we conducted whole genome sequencing on samples from three families with recurrent cases affected by congenital and isolated TEF.

Results

We identified a combination of single nucleotide variants (SNVs), spl

SUBMITTER: Klar J 

PROVIDER: S-EPMC7318369 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature