Xu M, Jiang J, He Y, Gu WY, Jin B. Early-onset ophthalmoplegia, cervical dyskinesia, and lower extremity weakness due to partial deletion of chromosome 16: A case report. World J Clin Cases 2022; 10(26): 9332-9339 [PMID: 36159412 DOI: 10.12998/wjcc.v10.i26.9332]
Corresponding Author of This Article
Bo Jin, MD, Chief Doctor, Department of Neurology, Children’s Hospital of Nanjing Medical University, No. 72 Guangzhou Road, Gulou District, Nanjing 210008, Jiangsu Province, China. 13182852157@163.com
Research Domain of This Article
Genetics & Heredity
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. Sep 16, 2022; 10(26): 9332-9339 Published online Sep 16, 2022. doi: 10.12998/wjcc.v10.i26.9332
Early-onset ophthalmoplegia, cervical dyskinesia, and lower extremity weakness due to partial deletion of chromosome 16: A case report
Min Xu, Jiao Jiang, Yan He, Wei-Yue Gu, Bo Jin
Min Xu, Jiao Jiang, Yan He, Bo Jin, Department of Neurology, Children’s Hospital of Nanjing Medical University, Nanjing 210008, Jiangsu Province, China
Wei-Yue Gu, Chigene (Beijing), Translational Medical Research Center Co. Ltd, Beijing 101111, China
Author contributions: Xu M and Jin B designed the research study; Jiang J and He Y performed the research; Jiang J and Gu WY contributed new reagents and analytic tools; Xu M and He Y analyzed the data and wrote the manuscript; All authors have read and approved the final manuscript.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have 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 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: Bo Jin, MD, Chief Doctor, Department of Neurology, Children’s Hospital of Nanjing Medical University, No. 72 Guangzhou Road, Gulou District, Nanjing 210008, Jiangsu Province, China. 13182852157@163.com
Received: March 25, 2022 Peer-review started: March 25, 2022 First decision: May 30, 2022 Revised: June 8, 2022 Accepted: July 21, 2022 Article in press: July 21, 2022 Published online: September 16, 2022 Processing time: 160 Days and 20.6 Hours
Abstract
BACKGROUND
We explored the genotype-phenotype correlation of the novel deletion 16p13.2p12.3 in an 8-year-old child with progressive total ophthalmoplegia, cervical dyskinesia, and lower limb weakness by comparing the patient’s clinical features with previously reported data on adjacent copy number variation (CNV) regions.
CASE SUMMARY
Specifically, we first performed whole-exome sequencing, CNV-sequencing, and mitochondrial genome sequencing on the patient and his parents, then applied “MitoExome” (the entire mitochondrial genome and exons of nuclear genes encoding the mitochondrial proteome) analysis to screen for genetic mitochondrial diseases. We identified a de novo 7.23 Mb deletion, covering 16p13.2p12.3, by both whole-exome sequencing and CNV sequencing. We also detected 16p13.11 in the deleted region, which is the recurrent distinct region associated with neurodevelopmental disorder. However, the patient only displayed features of progressive total ophthalmoplegia, cervical dyskinesia, and weakness in his lower limbs without neurodevelopmental disorder. The “MitoExome” sequencing was negative. Brain magnetic resonance imaging revealed non-specific sporadic changes in the occipital parietal lobe and basal ganglia.
CONCLUSION
Taken together, these results indicated that 16p13.2p12.3 deletion causes a syndrome with the phenotype of early-onset total ophthalmoplegia. The “MitoExome” analysis is powerful for the differential diagnosis of mitochondrial diseases. We report a novel copy number variant in this case, but further confirmation is required.
Core Tip: At present, little is known about the associated phenotypes of copy number variations in the short arm of chromosome 16. The most remarkable copy number variations is 16p13.11 microdeletion/microduplication. The main clinical features of this syndrome are a series of neurological abnormalities such as mental retardation, autism, schizophrenia, epilepsy, and attention deficit hyperactivity disorder. We identified a de novo 7.23 Mb deletion, covering 16p13.2p12.3. 16p13.11 was included in the deleted region, which is the recurrent distinct region associated with neurodevelopmental disorder. However, the patient only displayed features of progressive total ophthalmoplegia, cervical dyskinesia, and weakness in the lower limbs without neurodevelopmental disorder.
