[Genetic testing and prenatal diagnosis for a Chinese pedigree affected with mitochondrial DNA depletion syndrome due to variant of MPV17 gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(10): 1085-1088, 2022 Oct 10.
Article
in Zh
| MEDLINE
| ID: mdl-36184088
ABSTRACT
OBJECTIVE:
To explore the genetic etiology of a Chinese pedigree affected with infantile hepatitis syndrome.METHODS:
Genes associated with liver diseases subjected to high-throughput sequencing. Candidate variants were validated by Sanger sequencing of the proband and his parents. The pathogenicity of the variants was analyzed through bioinformatic analysis.RESULTS:
High-throughput sequencing revealed that the proband has harbored c.182T>C (p.F61S) and c.293C>T (p.P98L) variants of the MPV17 gene, which were verified by Sanger sequencing to be inherited from his parents. The variant c.182T>C (p.F61S) was unreported previously and predicted to be likely pathogenic by bioinformatic analysis.CONCLUSION:
The proband was caused by the compound heterozygous variations of MPV17 gene including c.182T>C (p.F61S) and c.293C>T (p.P98L). Discovery of the novel variant has enriched the spectrum of pathogenic variants of the MPV17 gene.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Genetic Testing
/
Metabolism, Inborn Errors
Type of study:
Diagnostic_studies
Limits:
Female
/
Humans
/
Pregnancy
Country/Region as subject:
Asia
Language:
Zh
Journal:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Journal subject:
GENETICA MEDICA
Year:
2022
Type:
Article
Affiliation country:
China