Exploring the molecular and clinical spectrum of COVID-19-related acute necrotizing encephalopathy in three pediatric cases.
J Hum Genet
; 68(11): 769-775, 2023 Nov.
Article
en En
| MEDLINE
| ID: mdl-37491516
ABSTRACT
Acute necrotizing encephalopathy (ANE) is a rare disease that predominantly affects children and is associated with a high mortality rate. Here we report three cases of COVID-19-related ANE in children, with the mutation detection in two genes associated with mitochondrial dysfunction. The cases exhibited common ANE symptoms, such as fever, impaired consciousness, positive pathological reflex, increased cerebrospinal fluid protein, and multifocal and symmetric brain lesions identified through MRI. Using genotype-phenotype correlation analysis in trio-whole exome sequencing (WES), four potential pathogenic variants were identified in two genes associated with mitochondrial function (RANBP2 and MCCC2). Notably, MCCC2 was identified as being potentially associated with COVID-19-related ANE for the first time, and two of the four variants had not been previously reported. Our findings expand the clinical and mutation spectrum of COVID-19-related ANE in pediatric cases. The finding of these three new cases in our study further supports the previous hypothesis about the role of mitochondrial homeostatic imbalance in COVID-19-related ANE. It is essential to use genetic testing to identify this subset of patients with compromised mitochondrial function in order to improve patient management and prognosis.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Tipo de estudio:
Prognostic_studies
Idioma:
En
Revista:
J Hum Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2023
Tipo del documento:
Article