Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders.

ABSTRACT:

Purpose

Congenital hypopituitarism (CH) can present in isolation or with other birth defects. Mutations in multiple genes can cause CH, and the use of a genetic screening panel could establish the prevalence of mutations in known and candidate genes for this disorder. It could also increase the proportion of patients that receive a genetic diagnosis.

Methods

We conducted target panel genetic screening using single-molecule molecular inversion probes sequencing to assess the frequency of mutations in known hypopituitarism genes and new candidates in Argentina. We captured genomic deoxyribonucleic acid from 170 pediatric patients with CH, either alone or with other abnormalities. We performed promoter activation assays to test the functional effects of patient variants in LHX3

SUBMITTER: Vishnopolska SA 

PROVIDER: S-EPMC8208670 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature