Trio-based whole exome sequencing in patients with ectopic posterior pituitary.

ABSTRACT:

Introduction

Ectopic posterior pituitary (EPP) is a rare congenital abnormality, sometimes associated with other midline defects, such as pituitary stalk interruption syndrome (PSIS), in which thin or absent pituitary stalk and anterior pituitary hypoplasia are combined to EPP. Most cases are sporadic, with few reports of familial cases, and many congenital hypopituitarism (CH) cases remain unsolved.

Objective

To search for candidate genes associated with this condition, we performed trio-based whole-exome sequencing (WES) on patients with EPP, including two familial cases.

Methods

This study included subjects with EPP and PSIS diagnosed by a simple MRI protocol (FAST1.2). We performed two distinct analyses in the trio-based WES. We looked for previously described gen

SUBMITTER: Lyra A 

PROVIDER: S-EPMC11327137 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature