Germline but not somatic de novo mutations are common in human congenital diaphragmatic hernia.

ABSTRACT:

Objectives

Congenital diaphragmatic hernia (CDH) is a developmental defect of the diaphragm that causes high newborn morbidity and mortality. CDH is considered to be a multifactorial disease, with strong evidence implicating genetic factors. Although recent studies suggest the biological role of deleterious germline de novo variants, the effect of gene variants specific to the diaphragm remains unclear, and few single genes have been definitively implicated in human disease.

Methods

We performed genome sequencing on 16 individuals with CDH and their unaffected parents, including 10 diaphragmatic samples.

Results

We did not detect damaging somatic mutations in diaphragms, but identified germline heterozygous de novo functional mutations of 14 genes in nine patients. Al

SUBMITTER: Matsunami N 

PROVIDER: S-EPMC5903934 | biostudies-literature | 2018 Apr

REPOSITORIES: biostudies-literature