Whole‐exome sequencing identified novel variants in three Chinese Leigh syndrome pedigrees-Reference-Cited by-同舟云学术

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Whole‐exome sequencing identified novel variants in three Chinese Leigh syndrome pedigrees

Published:2022-01-10 Issue:4 Volume:188 Page:1214-1225
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Yang Zhihua¹^ORCID,Cao Jun¹,Song Yucen¹,Li Suyi¹,Jiao Zhihui¹,Ren Shumin¹^ORCID,Gao Xu¹,Zhang Suqin²,Liu Jingjing³,Chen Yibing¹

Affiliation:

1. Genetic and Prenatal Diagnosis Center, Department of Gynecology and Obstetrics First Affiliated Hospital, Zhengzhou University Zhengzhou China

2. Department of Pediatrics First Affiliated Hospital, Zhengzhou University Zhengzhou China

3. Department of MR Imaging First Affiliated Hospital, Zhengzhou University Zhengzhou China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62641

Reference63 articles.

1. Mitochondrial and nuclear disease panel (Mito-aND-Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost-effective and sensitive NGS-based method

2. A lethal neonatal phenotype of mitochondrial short-chain enoyl-CoA hydratase-1 deficiency

3. Recessive germlineSDHAandSDHBmutations causing leukodystrophy and isolated mitochondrial complex II deficiency

4. The genetics and pathology of mitochondrial disease

5. Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndrome

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1. Molecular and in silico investigation of a novel ECHS1 gene mutation in a consanguine family with short-chain enoyl-CoA hydratase deficiency and Mt-DNA depletion: effect on trimer assembly and catalytic activity;Metabolic Brain Disease;2024-02-16

2. Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review;BMC Pediatrics;2024-02-03

3. Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review;2023-09-19

4. Progressive Mitochondrial Encephalopathy Due to the Novel Compound Heterozygous Variants c.182C>T and c.446A>AG in NARS2: A Case Report;Cureus;2023-08-23

5. Clinical and genetic analyses of premature mitochondrial encephalopathy with epilepsia partialis continua caused by novel biallelic NARS2 mutations;Frontiers in Neuroscience;2022-12-21

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