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

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

Ethical Approval and Consent to Participate

This research was approved by the Alborz University of Medical Sciences research ethics committee. The purpose of this study was explained to the participant's parents/legal guardians in depth and written consent was obtained from them to use the data for research purposes. A separate informed written consent was obtained from all the patients' parents/legal guardians for publication purposes.

Availability of Data and Materials

The datasets used and/or analyzed during the current study are available from the corresponding author on request, with approval of the patients' legal guardians.

Authors' Contributions

N.M.K. and S.N. designed the study, clinical reviews, and performed the treatment of the patients. S.S. and B.H.Z performed genetic testing and analyzed genetic findings. K.K. designed the data collection instruments and performed data analysis. N.M.K. aided in the genetic study, drafted the initial manuscript, reviewed and revised the manuscript, enrolled the patients in the study, collected the data, and drafted the final manuscript. B.H.Z. and T.V. prepared, revised, and reviewed the final manuscript.

All authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work.

Publication History

Received: 18 May 2020

Accepted: 26 July 2020

Article published online:
18 September 2020

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