ATAD3A gene variations in a family with Harel-Yoon syndrome.
10.3724/zdxbyxb-2023-0421
- VernacularTitle:Harel-Yoon综合征一家系临床表型及ATAD3A基因变异分析
- Author:
Yi ZHENG
1
;
Xinyu YU
2
;
Ting ZHANG
3
;
Lingwei HU
3
;
Duo ZHOU
3
;
Xinwen HUANG
4
Author Information
1. Department of Genetic and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China. 22318424@zju.edu.cn.
2. Department of Hepatobiliary and Pancreatic Surgery, the First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310003, China. 3180105451@zju.edu.cn.
3. Department of Genetic and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China.
4. Department of Genetic and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China. 6305022@zju.edu.cn.
- Publication Type:Journal Article
- Keywords:
ATAD3A gene;
Case report;
Harel-Yoon syndrome;
Hereditary spastic paraplegia;
Hyperlactatemia;
Metabolic acidosis;
Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
- MeSH:
Humans;
Infant, Newborn;
Female;
Aged;
Mutation;
Hyperlactatemia;
ATPases Associated with Diverse Cellular Activities/chemistry*;
Membrane Proteins/genetics*;
Mitochondrial Proteins/genetics*
- From:
Journal of Zhejiang University. Medical sciences
2023;52(6):738-743
- CountryChina
- Language:English
-
Abstract:
An 11-day-old female neonate was admitted for cough with mouth foaming and feeding difficulties. The laboratory results indicated hyperlactatemia, elevated markers of myocardial injury and inflammation, and high levels of acylcarnitine octanoylcarnitine and decanoylcarnitine in tandem mass spectrometry. Ultrasonography and MRI suggested cardiac insufficiency and hypertrophic cardiomyopathy. Whole exome sequencing showed that both the proband and her elderly sister had a compound heterozygous variant of c.1492dup (p.T498Nfs*13) and c.1376T>C (p.F459S) in the ATAD3A gene, inherited from their father and mother, respectively. The diagnosis of Harel-Yoon syndrome was confirmed. The proband and her sister were born with clinical manifestations of metabolic acidosis, hyperlactatemia, feeding difficulties, elevated markers of myocardial injury as well as cardiac insufficiency, and both died in early infancy.
