Whole Exome Sequencing Uncovered the Genetic Architecture of Growth Hormone Deficiency Patients.

ABSTRACT:

Purpose

Congenital growth hormone deficiency (GHD) is a rare and etiologically heterogeneous disease. We aim to screen disease-causing mutations of GHD in a relatively sizable cohort and discover underlying mechanisms via a candidate gene-based mutational burden analysis.

Methods

We retrospectively analyzed 109 short stature patients associated with hormone deficiency. All patients were classified into two groups: Group I (n=45) with definitive GHD and Group II (n=64) with possible GHD. We analyzed correlation consistency between clinical criteria and molecular findings by whole exome sequencing (WES) in two groups. The patients without a molecular diagnosis (n=90) were compared with 942 in-house controls for the mutational burden of rare mutations in 259 genes biolog

SUBMITTER: Yu C 

PROVIDER: S-EPMC8475633 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature