Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience.

ABSTRACT:

Purpose

We used next-generation sequencing (NGS) to investigate the genetic causes of suspected genetic short stature in 37 patients, and we describe their phenotypes and various genetic spectra.

Methods

We reviewed the medical records of 50 patients who underwent genetic testing using NGS for suspected genetic short stature from June 2019 to December 2022. Patients with short stature caused by nongenetic factors or common chromosomal abnormalities were excluded. Thirty-seven patients from 35 families were enrolled in this study. We administered one of three genetic tests (2 targeted panel tests or whole exome sequencing) to patients according to their phenotypes.

Results

Clinical and molecular diagnoses were confirmed in 15 of the 37 patients, for an overall diagnost

SUBMITTER: Kim SJ 

PROVIDER: S-EPMC10925784 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature