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12/26/2019 9:54:37 AM | Browse: 382 | Download: 590
Publication Name World Journal of Clinical Cases
Manuscript ID 50758
Country/Territory Mexico
Received
2019-09-08 20:07
Peer-Review Started
2019-09-08 20:07
To Make the First Decision
2019-10-24 08:52
Return for Revision
2019-10-25 10:35
Revised
2019-10-31 01:59
Second Decision
2019-11-13 11:30
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2019-11-13 23:39
Articles in Press
2019-11-13 23:39
Publication Fee Transferred
Edit the Manuscript by Language Editor
Typeset the Manuscript
2019-11-19 02:53
Publish the Manuscript Online
2019-12-06 11:43
ISSN 2307-8960 (online)
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/
Copyright © The Author(s) 2019. Published by Baishideng Publishing Group Inc. All rights reserved.
Article Reprints For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
Permissions For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
Publisher Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
Website http://www.wjgnet.com
Category Medicine, Research & Experimental
Manuscript Type Case Report
Article Title Diagnosis of Laron syndrome using monoplex-polymerase chain reaction technology with a whole-genome amplification template: A case report
Manuscript Source Unsolicited Manuscript
All Author List Adina Neumann, Miguel Ángel Alcantara-Ortigoza, Ariadna González-del Ángel, Felipe Camargo-Diaz and Esther López-Bayghen
Funding Agency and Grant Number
Funding Agency Grant Number
Conacyt 23179
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, Mexico City 07360, Mexico. ebayghen@cinvestav.mx
Key Words Growth hormone insensitivity; Growth hormone receptor mutations; Intragenic deletions; Molecular diagnosis; Embryo diagnosis; Laron syndrome
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.
Publish Date 2019-12-06 11:43
Citation Neumann A, Alcántara-Ortigoza MÁ, González-del ÁngeA, Camargo-Diaz F, López-Bayghen E. Diagnosis of Laron syndrome using monoplex-polymerase chain reaction technology with a whole-genome amplification template: A case report. World J Clin Cases 2019; 7(23): 4029-4035
URL https://www.wjgnet.com/2307-8960/full/v7/i23/4029.htm
DOI https://dx.doi.org/10.12998/wjcc.v7.i23.4029
Full Article (PDF) WJCC-7-4029.pdf
Full Article (Word) WJCC-7-4029.docx
CARE Checklist–2016 50758-CARE-Checklist–2016-revision.pdf
Manuscript File 50758-Review.docx
Answering Reviewers 50758-Answering reviewers.pdf
Audio Core Tip 50758-Audio core tip.mp3
Conflict-of-Interest Disclosure Form 50758-Conflict-of-interest statement.pdf
Copyright License Agreement 50758-Copyright license agreement.pdf
Approved Grant Application Form(s) or Funding Agency Copy of any Approval Document(s) 50758-Grant application form(s).pdf
Signed Informed Consent Form(s) or Document(s) 50758-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate 50758-Language certificate.pdf
Peer-review Report 50758-Peer-review(s).pdf
Scientific Misconduct Check 50758-Scientific misconduct check.pdf
Scientific Editor Work List 50758-Scientific editor work list.pdf