Whole-Exome Sequencing in Idiopathic Short Stature: Rare Mutations Affecting Growth

Shahab Noorian; Nami Mohammadian Khonsari; Shahram Savad; Benyamin Hakak-Zargar; Tessa Voth; Koroush Kabir

doi:10.1055/s-0040-1716400

Journal of Pediatric Genetics, Table of Contents

J Pediatr Genet 2021; 10(04): 284-291
DOI: 10.1055/s-0040-1716400

Original Article

Whole-Exome Sequencing in Idiopathic Short Stature: Rare Mutations Affecting Growth

Shahab Noorian

¹Department of Pediatrics, School of Medicine, Alborz University of Medical Sciences, Karaj, Iran

,

Nami Mohammadian Khonsari

²Student Research Committee, School of Medicine, Alborz University of Medical Sciences, Karaj, Iran

,

Shahram Savad

³Pars Genome Medical Genetics Clinic, Karaj, Iran

,

Benyamin Hakak-Zargar

⁴Faculty of Health Sciences, Simon Fraser University, Burnaby, British Columbia, Canada

,

Tessa Voth

⁵Department of Biomedical Physiology and Kinesiology, Faculty of Sciences, Simon Fraser University, Burnaby, British Columbia, Canada

,

Koroush Kabir

⁶Department of Community Medicine and Epidemiology, School of Medicine, Alborz University of Medical Sciences, Karaj, Iran

› Author Affiliations

Abstract

Idiopathic short stature (ISS) is a common diagnosis of exclusion in patients with short stature (SS). In this article, we aimed to identify the genetic causes of SS in patients with ISS and investigate treatment options. Fourteen children with diagnosis of ISS were identified, and whole-exome sequencing (WES) was subsequently conducted on blood-derived DNA. Five patients were correctly diagnosed with ISS and four had rare mutations that have not been previously reported. Four patients had mutations known to cause SS and one had a mutation that was known not to affect height. WES can help identify rare mutations implicated in ISS.

Keywords

idiopathic short stature - medical - whole-exome sequencing

Full Text

References

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