[Analysis of clinical phenotype and genetic variants in a child with mitochondrial F-S disease due to variants of FDXR gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(4): 413-418, 2023 Apr 10.
Article
en Zh
| MEDLINE
| ID: mdl-36972934
ABSTRACT
OBJECTIVE:
To analyze the clinical phenotype and genetic variants of a child suspected for mitochondrial F-S disease.METHODS:
A child with mitochondrial F-S disease who visited Department of Neurology, Hunan Provincial children's Hospital on November 5, 2020 was selected as research subject of this study. Clinical data of the child was collected. The child was subjected to whole exome sequencing (WES). Bioinformatics tools were used to analyze the pathogenic variants. Candidate variants were verified by Sanger sequencing of the child and her parents.RESULTS:
WES revealed that the child has harbored compound heterozygous variants of the FDXR gene, namely c.310C>T (p.R104C) and c.235C>T (p.R79C), which were inherited from her father and mother, respectively. Neither variant has been reported in HGMD, PubMed, 1000 Genomes, and dbSNP databases. Both of the variants have been suggested as deleterious according to the prediction results from different bioinformatics analysis software.CONCLUSION:
Mitochondrial diseases should be suspected for patients with multiple system involvement. The compound heterozygous variants of the FDXR gene probably underlay the disease in this child. Above finding has enriched the spectrum of FDXR gene mutations underlying mitochondrial F-S disease. WES can facilitate the diagnosis of mitochondrial F-S disease at the molecular level.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Enfermedades Mitocondriales
Tipo de estudio:
Prognostic_studies
Límite:
Child
/
Female
/
Humans
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Asunto de la revista:
GENETICA MEDICA
Año:
2023
Tipo del documento:
Article
País de afiliación:
China