Next generation sequencing panel based on single molecule molecular inversion probes for detecting genetic variants in children with hypopituitarism.

ABSTRACT:

Background

Congenital Hypopituitarism is caused by genetic and environmental factors. Over 30 genes have been implicated in isolated and/or combined pituitary hormone deficiency. The etiology remains unknown for up to 80% of the patients, but most cases have been analyzed by limited candidate gene screening. Mutations in the PROP1 gene are the most common known cause, and the frequency of mutations in this gene varies greatly by ethnicity. We designed a custom array to assess the frequency of mutations in known hypopituitarism genes and new candidates, using single molecule molecular inversion probes sequencing (smMIPS).

Methods

We used this panel for the first systematic screening for causes of hypopituitarism in children. Molecular inversion probes were designed to capture

SUBMITTER: Perez Millan MI 

PROVIDER: S-EPMC6081231 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature