Compound heterozygous NDUFS1 variants identified in a Chinese pedigree affected with mitochondrial respiratory chain complex I deficiency / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 247-250, 2021.
Article
ي Zh
| WPRIM
| ID: wpr-879563
المكتبة المسؤولة:
WPRO
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a Chinese pedigree with suspected mitochondrial functional defects through combined next-generation sequencing (NGS), copy number variation sequencing (CNV-seq), and mitochondrial DNA (mtDNA) sequencing.@*METHODS@#Clinical data of the proband and his family members were collected. The patient and his parents were subjected to family-trio whole-exome sequencing (WES), CNV-seq and mtDNA variant detection. Candidate variant was verified by Sanger sequencing.@*RESULTS@#Trio-WES revealed that the proband has carried compound heterozygous variants of the NDUFS1 gene, including a paternally derived c.64C>T (p.R22X) nonsense variant and a maternally derived c.845A>G (p.N282S) missense variant. Both variants may cause loss of protein function. No variant that may cause the phenotype was identified by CNV-seq and mtDNA variant analysis.@*CONCLUSION@#Children with suspected mitochondrial disorders may have no specific syndromes or laboratory findings. A comprehensive strategy including mtDNA testing may facilitate the diagnosis and early clinical interventions.
النص الكامل:
1
الفهرس:
WPRIM
الموضوع الرئيسي:
Pedigree
/
China
/
Electron Transport
/
DNA Copy Number Variations
/
Mutation
/
NADH Dehydrogenase
نوع الدراسة:
Prognostic_studies
المحددات:
Child
/
Humans
البلد/الأقليم حسب الموضوع:
Asia
اللغة:
Zh
مجلة:
Chinese Journal of Medical Genetics
السنة:
2021
نوع:
Article