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©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
Child with adenylosuccinate lyase deficiency caused by a novel complex heterozygous mutation in the ADSL gene: A case report
Xing-Chen Wang, Ting Wang, Rui-Han Liu, Yan Jiang, Dan-Dan Chen, Xin-Yu Wang, Qing-Xia Kong
Xing-Chen Wang, Cheeloo College of Medicine, Shandong University, Jinan 250012, Shandong Province, China
Ting Wang, Qing-Xia Kong, Department of Neurology, Affiliated Hospital of Jining Medical University, Jining 272000, Shandong Province, China
Rui-Han Liu, Department of Pediatrics, Affiliated Hospital of Jining Medical University, Jining 272000, China
Rui-Han Liu, College of TCM, Shandong University of Traditional Chinese Medicine, Jinan 250012, Shandong Province, China
Yan Jiang, Dan-Dan Chen, Xin-Yu Wang, Clinical Medical College, Jining Medical University, Jining 272000, Shandong Province, China
Author contributions: Wang XC, Liu RH, and Kong QX designed the study; Chen DD, Jiang Y, Wang XY, and Wang T collected the data; Wang XC, Wang T, and Liu RH contributed to data analysis and interpretation; Wang XC drafted the manuscript; Kong QX and Liu RH contributed to revisions; all authors approved the final version of the manuscript.
Supported by the Natural Science Foundation of Shandong Province, No. ZR2019MH060.
Informed consent statement: Informed written consent was obtained from the patients for the 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: Qing-Xia Kong, PhD, Chief Physician, Doctor, Department of Neurology, Affiliated Hospital of Jining Medical University, No. 89 Guhuai Road, Jining 272000, Shandong Province, China. kxdqy8@sohu.com
Received: May 29, 2022
Peer-review started: May 29, 2022
First decision: June 27, 2022
Revised: July 8, 2022
Accepted: September 14, 2022
Article in press: September 14, 2022
Published online: October 26, 2022
BACKGROUND
Adenylosuccinate lyase (ADSL) deficiency is a rare autosomal-recessive defect of purine metabolism caused by mutation of the ADSL gene. It can cause severe neurological impairment and diverse clinical manifestations, including epilepsy.
CASE SUMMARY
Here, we describe a 3-year-old Chinese boy who had both psychomotor retardation and refractory epilepsy. Magnetic resonance imaging showed myelin hypoplasia. Electroencephalography findings supported a diagnosis of epilepsy. Whole-exon sequencing revealed the presence of a novel complex heterozygous mutation in the ADSL gene: The splicing mutation c.154-3C>G and the missense mutation c.71C>T (p. Pro24Leu). Considering the patient’s clinical presentation and genetic test results, the complex heterozygous mutation was predicted to prevent both ADSL alleles from producing normal ADSL, which may have led to ADSL deficiency. Finally, the child was diagnosed with ADSL deficiency.
CONCLUSION
We identified a novel complex heterozygous mutation in the ADSL gene associated with ADSL deficiency, thus expanding the known spectrum of pathogenic mutations that cause ADSL deficiency. Additionally, we describe epilepsy that occurs in patients with ADSL deficiency.
Core Tip: A child presented with comprehensive developmental delay and epilepsy. Whole-exon sequencing revealed the presence of a novel complex heterozygous mutation in the adenylosuccinate lyase (ADSL) gene. Bioinformatics analysis suggested that the mutation caused ADSL deficiency.
