Case Report
Copyright ©The Author(s) 2019. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Dec 6, 2019; 7(23): 4029-4035
Published online Dec 6, 2019. doi: 10.12998/wjcc.v7.i23.4029
Diagnosis of Laron syndrome using monoplex-polymerase chain reaction technology with a whole-genome amplification template: A case report
Adina Neumann, Miguel Ángel Alcántara-Ortigoza, Ariadna González-del Ángel, Felipe Camargo-Diaz, Esther López-Bayghen
Adina Neumann, Felipe Camargo-Diaz, Laboratorio de Investigación y Diagnóstico Molecular, Instituto de Infertilidad y Genética México SC, INGENES, México City 05320, México
Miguel Ángel Alcántara-Ortigoza, Ariadna González-del Ángel, Instituto Nacional de Pediatría, Torre de Investigación, Mexico City 04530, México
Miguel Ángel Alcántara-Ortigoza, Ariadna González-del Ángel, Laboratorio de Biología Molecular, Departamento de Genética Humana, Instituto Nacional de Pediatría, México City 04530, México
Esther López-Bayghen, Departamento de Toxicología, Centro de Investigación y de Estudios Avanzados del Instituto Politécnico Nacional (CINVESTAV-IPN), México City 07360, México
Author contributions: All authors contributed to this work.
Supported by Conacyt, NO. 231793.
Informed consent statement: The intervention protocol has approved by the Ethics Committee of the Ingenes Institute (approval number ISF300316). Both patients provided written informed consent to participate in this study, in accordance with the Declaration of Helsinki. Written informed consent was obtained from the patient(s) for their anonymized information to be published in this article.
Conflict-of-interest statement: The authors declare no conflict of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Corresponding author: Esther López-Bayghen, MSc, PhD, Academic Research, Professor, Senior Researcher, Senior Scientist, Departamento de Toxicología, Centro de Investigación y de Estudios Avanzados del Instituto Politécnico Nacional (CINVESTAV-IPN), Avenida Instituto Politécnico Nacional 2508, San Pedro Zacatenco, México City 07360, México. ebayghen@cinvestav.mx
Telephone: +52-55-57473800
Received: September 8, 2019
Peer-review started: September 8, 2019
First decision: October 24, 2019
Revised: October 31, 2019
Accepted: November 14, 2019
Article in press: November 14, 2019
Published online: December 6, 2019
Processing time: 88 Days and 15.6 Hours
Core Tip

Core tip: Laron syndrome (LS) is a low prevalent, autosomal recessive hereditary disorder affecting the Jewish population; however, when LS is expected, genetic testing is required. This case study demonstrates that by using monoplex-polymerase chain reaction (PCR) during Pre-implantation Genetic Diagnosis, we were able to accurately identify mutations in the growth hormone receptor (GHR). Here, we show that, in Mexico, the cause of LS was the deletion of the exons 5 and 6 in the GHR gene; moreover, we were able to select an embryo, which produced an LS negative fetus. This study provides evidence that monoplex-PCR can serve as an excellent tool to detect diseases during in vitro fertilization.