The Somatic Mutation Paradigm in Congenital Malformations: Hirschsprung Disease as a Model.

ABSTRACT: Patients with Hirschsprung disease (HSCR) do not always receive a genetic diagnosis after routine screening in clinical practice. One of the reasons for this could be that the causal mutation is not present in the cell types that are usually tested-whole blood, dermal fibroblasts or saliva-but is only in the affected tissue. Such mutations are called somatic, and can occur in a given cell at any stage of development after conception. They will then be present in all subsequent daughter cells. Here, we investigated the presence of somatic mutations in HSCR patients. For this, whole-exome sequencing and copy number analysis were performed in DNA isolated from purified enteric neural crest cells (ENCCs) and blood or fibroblasts of the same patient. Variants identified were subsequently valida

SUBMITTER: MacKenzie KC 

PROVIDER: S-EPMC8624421 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature