Evidence map›Paper›PMID 41943097›Full record

ArticleBMC medical genomics2026

The first report of primary hypotonia with abnormal electromyogram and CBS mutation in a Chinese child.

Zhehuan Zhang, Suzhen Xu, Tianchen Wu, Wenwen Xu, Bingbing Wu, Chenhao Yang

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC medical genomics, 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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4 · The record

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5 · Who and what money

Authors and funding

6 authors.

Zhehuan ZhangDepartment of Ophthalmology, National Children's Medical Center-Shanghai, Children's Hospital of Fudan University, Shanghai, China.
Suzhen XuCenter for Molecular Medicine,National Children's Medical Center-Shanghai, Children's Hospital of Fudan University, Shanghai, China.
Tianchen WuDepartment of Ophthalmology, National Children's Medical Center-Shanghai, Children's Hospital of Fudan University, Shanghai, China.
Wenwen XuDepartment of Ophthalmology, National Children's Medical Center-Shanghai, Children's Hospital of Fudan University, Shanghai, China.
Bingbing WuCenter for Molecular Medicine,National Children's Medical Center-Shanghai, Children's Hospital of Fudan University, Shanghai, China.
Chenhao YangDepartment of Ophthalmology, National Children's Medical Center-Shanghai, Children's Hospital of Fudan University, Shanghai, China. ychben@hotmail.com.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundClassic Homocystinuria (HCU) is the second most treatable aminoacidopathy. It affects multiple organs in varying degrees, and early recognition and treatment is crucial to improve the prognosis. Mutations in the CBS gene result in classic HCU, the most common form. Genetic testing is important for the accurate diagnosis of this severe disorder.

methodCase report.

resultA 6-year-old boy presented with high myopia, ectopia lentis, and hypotonia. A brain MRI showed no abnormality, and his electromyogram implicated myogenic damage. His serum homocysteine was 277.5 µmol/L (normal ≤ 15 µmol/L), and methionine was 352.56 µmol/L (normal 0–80 µmol/L); thus, he was diagnosed with classic HCU. Compound heterozygous mutations at two different sites on the cystathionine beta‑synthase (CBS) gene (c.767G > T, c.949 A > G) were identified; the former had not been reported previously.

conclusionsThis study reported a novel mutation of CBS gene (c.767G > T). To our knowledge, this is the first report of this novel clinical manifestation of primary hypotonia in homocystinuria patients.

Indexed as

Cystathionine beta-SynthaseElectromyographyHomocystinuriaMuscle HypotoniaMutationChildEast Asian PeopleHumansMaleCystathionine beta-SynthaseCBS geneGenetic mutationHomocysteineHomocystinuriaHypotonia

Identifiers

PMID41943097
PMCPMC13188716

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