Two cases of MEGDEL syndrome due to variants of SERAC1 gene and a literature review.
10.3760/cma.j.cn511374-20220428-00291
- VernacularTitle:SERAC1基因变异致MEGDEL综合征2例并文献回顾
- Author:
Xiaoxia LIN
1
;
Xi LIN
;
Zheng YAN
;
Yanhui CHEN
;
Shan CHEN
Author Information
1. Department of Pediatrics, Fujian Medical University Union Hospital, Fuzhou, Fujian 350001, China. chenshanabc@163.com.
- Publication Type:Journal Article
- MeSH:
Humans;
Retrospective Studies;
Metabolism, Inborn Errors;
Hearing Loss, Sensorineural/genetics*;
Dystonia;
Carboxylic Ester Hydrolases
- From:
Chinese Journal of Medical Genetics
2023;40(9):1100-1106
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the clinical phenotype and genetic features of two children with MEGDEL syndrome due to variants of the SERAC1 gene.
METHODS:Two children who had presented at the Fujian Medical University Union Hospital respectively on July 14, 2020 and July 28, 2018 were selected as the study subjects. Clinical features and results of genetic testing were retrospectively analyzed.
RESULTS:Both children had featured developmental delay, dystonia and sensorineural deafness, along with increased urine 3-methylglutaric acid levels. Magnetic resonance imaging revealed changes similar to Leigh-like syndrome. Gene sequencing revealed that both children have harbored pathogenic compound heterozygous variants of the SERAC1 gene, including c.1159C>T and c.442C>T in child 1, and c.1168C>T and exons 4~9 deletion in child 2.
CONCLUSION:Children with MEGDEL syndrome due to SERAC1 gene variants have variable clinical genotypes. Delineation of its clinical characteristics and typical imaging changes can facilitate early diagnosis and treatment. Discovery of the novel variants has also enriched the spectrum of SERAC1 gene variants.
