Whole Exome Sequencing in Patients With Ectopic Posterior Pituitary.

ABSTRACT:

Context

Ectopic posterior pituitary (EPP), a condition in which the posterior pituitary gland is displaced due to defective neuronal migration, is frequently associated with hypopituitarism. Genetic variants play a role, but many cases remain unexplained.

Objective

A large EPP cohort was studied to explore the importance of genetic variants and how they correlate with clinical findings.

Methods

Whole exome sequencing was performed on a discovery sample of 27 cases to identify rare variants. The variants that met the criteria for rarity and biological relevance, or that were previously associated with EPP (ROBO1 and HESX1), were then resequenced in the 27 cases plus a replication sample of 51 cases.

Results

We identified 16 different variants in 12

SUBMITTER: Silva TS 

PROVIDER: S-EPMC9419495 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature