Wang LP, Luo HZ, Song M, Yang ZZ, Yang F, Cao YT, Chen J. Hemizygous deletion in the OTC gene results in ornithine transcarbamylase deficiency: A case report. World J Clin Cases 2022; 10(4): 1417-1422 [PMID: 35211578 DOI: 10.12998/wjcc.v10.i4.1417]
Corresponding Author of This Article
Juan Chen, MM, Chief Doctor, Department of Neonatology, Affiliated Hospital of Zunyi Medical University, No. 149 Dalian Road, Huichuan District, Zunyi 563000, Guizhou Province, China. chenjuan0852@126.com
Research Domain of This Article
Medicine, General & Internal
Article-Type of This Article
Case Report
Open-Access Policy of This Article
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/
World J Clin Cases. Feb 6, 2022; 10(4): 1417-1422 Published online Feb 6, 2022. doi: 10.12998/wjcc.v10.i4.1417
Hemizygous deletion in the OTC gene results in ornithine transcarbamylase deficiency: A case report
Li-Ping Wang, Hou-Zhong Luo, Mao Song, Zuo-Zhen Yang, Fan Yang, Yun-Tao Cao, Juan Chen
Li-Ping Wang, Hou-Zhong Luo, Mao Song, Yun-Tao Cao, Juan Chen, Department of Neonatology, Affiliated Hospital of Zunyi Medical University, Zunyi 563000, Guizhou Province, China
Zuo-Zhen Yang, Fan Yang, Cipher Gene LLC, Beijing 100089, China
Author contributions: Wang LP, Cao YT, and Chen J jointly conceived the study and contributed to the study design, initial writing, and revision of the manuscript; Luo HZ collected the patient data; Wang LP and Song M performed the molecular experiments; Yang ZZ and Yang F reviewed variant interpretation; all authors contributed to the manuscript and approved the submitted version.
Informed consent statement: Written informed consent was obtained from the proband’s parents for the publication of any identifiable clinical data and images in this study.
Conflict-of-interest statement: The authors declare no conflicts 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 that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (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: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Juan Chen, MM, Chief Doctor, Department of Neonatology, Affiliated Hospital of Zunyi Medical University, No. 149 Dalian Road, Huichuan District, Zunyi 563000, Guizhou Province, China. chenjuan0852@126.com
Received: September 3, 2021 Peer-review started: September 3, 2021 First decision: November 11, 2021 Revised: November 22, 2021 Accepted: December 25, 2021 Article in press: December 25, 2021 Published online: February 6, 2022 Processing time: 142 Days and 19.6 Hours
Abstract
BACKGROUND
Ornithine transcarbamylase deficiency (OTCD) is a common ornithine cycle disorder, and OTC gene variation is the main pathogenic factor of this disease. This study explored and validated a variant in the OTC gene.
CASE SUMMARY
The neonate exhibited high blood ammonia, lactic acid, and homocysteine levels on the fifth day after birth. A novel deletion variant in the OTC gene [NM_000531.5, c.970_979delTTCCCAGAGG, p.Phe324GlnfsTer16] was uncovered by exome sequencing. The variant caused a protein-coding frameshift and resulted in early translation termination at the 16th amino acid after the variant site.
CONCLUSION
Our results provide a novel pathogenic variant in OTC and related clinical features for further OTCD screening and clinical consultation.
Core Tip: In this study, we introduce one boy with ornithine transcarbamylase deficiency caused by an unreported hemizygous variant of OTC gene. Our study delivered the importance of OTC gene testing in metabolism disease. We believe that our study will inspire more doctors to apply genetics testing when facing complex clinical features for neonatal cases.
