Evidence map›Paper›PMID 41501912›Full record

ArticleOrphanet journal of rare diseases2026

Clinical and genetic spectrum of pediatric mitochondrial disorders in China: insights from a 47-case genetically confirmed cohort.

Fan Yang, Ruen Yao, Guoying Chang, Jiayue Hu, Biyun Feng, Libo Wang, Feihan Hu, Yiguo Huang, Shuo Wu, Tingting Yu and 2 more

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PubMed Full text at PMC Publisher
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Article in Orphanet journal of rare diseases, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

12 authors.

Fan Yang *Department of Clinical Research Ward, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China.
Ruen Yao *Department of Medical Genetics and Molecular Diagnostics Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China.
Guoying ChangDepartment of Clinical Research Ward, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China.
Jiayue HuDepartment of Clinical Research Ward, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China.
Biyun FengDepartment of Endocrinology, Genetics and Metabolism, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China.
Libo WangDepartment of Endocrinology, Genetics and Metabolism, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China.
Feihan HuDepartment of Endocrinology, Genetics and Metabolism, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China.
Yiguo HuangDepartment of Endocrinology, Genetics and Metabolism, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China.
Shuo WuDepartment of Endocrinology, Genetics and Metabolism, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China.
Tingting YuDepartment of Medical Genetics and Molecular Diagnostics Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China.
Yu DingDepartment of Endocrinology, Genetics and Metabolism, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China. dingyu@scmc.com.cn.
Xiumin WangDepartment of Clinical Research Ward, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China. wangxiumin1019@126.com.ORCID http://orcid.org/0000-0002-2186-759X

Funding

2024-National Clinical Key Specialty Construction Project No.10000015Z155080000004Key Laboratory of Inorganic Functional Materials and Devices No. 24dz2260100National Key Research and Development Program of China 2022YFC2703102National Nature Science Foundation of China No. 82170910Science and Technology Commission of Shanghai Municipality NO. 23J41900200
6 · The paper itself

Abstract

backgroundPrimary mitochondrial disorders (MDs) are genetically and clinically heterogeneous metabolic diseases caused by mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) mutations. Pediatric MDs pose diagnostic challenges due to variable onset, multisystem involvement, and complex genotype–phenotype correlations.

methodsWe retrospectively analyzed 69 children with suspected MDs at Shanghai Children’s Medical Center (2015–2025). Genetic diagnoses were established through targeted next-generation sequencing (NGS) combined with clinical, biochemical, and neuroimaging evaluation. Forty-seven patients were genetically confirmed and classified into mtDNA and nDNA groups for comparison.

resultsThe diagnostic yield was 68% (47/69). mtDNA mutations accounted for 64% (30/47), with MT-TL1 m.3243 A > G being the most frequent (60%), followed by MT-ATP6 m.8993T > C and MT-ND6 m.14484T > C. nDNA mutations (36%) affected 12 genes, mostly related to complex I. Common phenotypes included MELAS (45%) and Leigh syndrome (LS) (28%). Compared to nDNA cases, mtDNA patients had higher epilepsy (64.5% vs. 43.8%) and stroke-like episodes (58.1% vs. 31.2%), while nDNA cases had earlier onset (1.15 vs. 5.42 years, P < 0.001) and more hypoglycemia. MT-TL1 pedigrees showed maternal inheritance, phenotypic variability, and generational worsening. Mutation load was higher in MT-ATP6-related LS than in MT-TL1-related MELAS (P = 0.008). Serial neuroimaging revealed syndrome-specific progression. All six fatal cases exhibited a “neuroimaging–metabolic–cardiac/respiratory failure” triad.

conclusionsChinese pediatric MDs show marked genetic and phenotypic heterogeneity. Recognizing genotype–phenotype patterns, longitudinal imaging, and critical risk triads may improve diagnosis, management, and patient selection for future trials.

Indexed as

Mitochondrial DiseasesAdolescentChildChild, PreschoolChinaDNA, MitochondrialFemaleHumansInfantLeigh DiseaseMaleMELAS SyndromeMutationPhenotypeRetrospective StudiesDNA, MitochondrialGenotype–phenotype correlationHeteroplasmyMitochondrial disordersNeuroimagingPediatric

Identifiers

PMID41501912
PMCPMC13094090

What Socratic holds

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LicenceCC BY
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.