Evidence map›Paper›PMID 41018190›Full record

ArticleFrontiers in neurology2025

Compound heterozygous mutations in

Jieling Li, Hu Liu, Xiaoming Gan, Yuexu Ou, Yuanhui Duan, Jie Cao

Abstract read
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Article in Frontiers in neurology, 2025. 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

6 authors.

Jieling LiDepartment of Medical General Ward, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, Chongqing, China.
Hu LiuDepartment of Medical General Ward, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, Chongqing, China.
Xiaoming GanDepartment of Medical General Ward, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, Chongqing, China.
Yuexu OuDepartment of Medical General Ward, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, Chongqing, China.
Yuanhui DuanDepartment of Medical General Ward, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, Chongqing, China.
Jie CaoDepartment of Medical General Ward, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, Chongqing, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Although Methods: We retrospectively analyzed the clinical features of four children from two unrelated families with MPXPS caused by compound heterozygous mutations in the Results: Four children from two unrelated families presented with elevated muscle enzymes and liver function abnormalities. In Family 1, the proband (older brother, 8 years) exhibited typical MPXPS symptoms including motor dysfunction and cognitive impairment, while his younger brother (4 years) remained asymptomatic though with elevated muscle enzymes. WES identified compound heterozygous variants c.156G > A and c.235G > T in the two siblings. In Family 2, the proband (older sister, 3 years 4 months) manifested early signs including pes planus and attention deficits, whereas her younger sister (1 year 6 months) showed no clinical manifestations despite biochemical abnormalities. WES identified compound heterozygous variants EXON4-8 heterozygous deletion and c.1,372C > T. Conclusion: The phenotypic variations between the sibling pairs across both pedigrees may indicate age-dependent disease progression. The four children in this study with MPXPS due to compound heterozygous mutations in the

Indexed as

clinical featurescompound heterozygous mutationsMICU1myopathy with extrapyramidal signstwo Chinese pedigrees

Identifiers

PMID41018190
PMCPMC12465278

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