Evidence map›Paper›PMID 42399817›Full record

ArticleJournal of neurodevelopmental disorders2026

X-chromosomal genetic variants and haplotype analysis in male cerebral palsy patients: insights into genetic susceptibility and sex-specific risk.

Yu Su, Yangong Wang, Ye Cheng, Yiran Xu, Yimeng Qiao, Lei Xia, Juan Song, Yunqian Li, Junjie Zhang, Hongyuan Sun and 3 more

Abstract read
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In one paragraph

Article in Journal of neurodevelopmental disorders, 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

13 authors.

Yu Su *Children's Hospital of Fudan University and Institutes of Biomedical Sciences of Fudan University, Shanghai, 200032, China.
Yangong Wang *Children's Hospital of Fudan University and Institutes of Biomedical Sciences of Fudan University, Shanghai, 200032, China.
Ye Cheng *Children's Hospital of Fudan University and Institutes of Biomedical Sciences of Fudan University, Shanghai, 200032, China.
Yiran Xu *Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, Department of Pediatrics, The Third Affiliated Hospital and Institute of Neuroscience of Zhengzhou University, Zhengzhou, 450052, China.
Yimeng QiaoChildren's Hospital of Fudan University and Institutes of Biomedical Sciences of Fudan University, Shanghai, 200032, China.
Lei XiaHenan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, Department of Pediatrics, The Third Affiliated Hospital and Institute of Neuroscience of Zhengzhou University, Zhengzhou, 450052, China.
Juan SongHenan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, Department of Pediatrics, The Third Affiliated Hospital and Institute of Neuroscience of Zhengzhou University, Zhengzhou, 450052, China.
Yunqian LiChildren's Hospital of Fudan University and Institutes of Biomedical Sciences of Fudan University, Shanghai, 200032, China.
Junjie ZhangChildren's Hospital of Fudan University and Institutes of Biomedical Sciences of Fudan University, Shanghai, 200032, China.
Hongyuan SunChildren's Hospital of Fudan University and Institutes of Biomedical Sciences of Fudan University, Shanghai, 200032, China.
Xiaoyang WangCentre for Perinatal Medicine and Health, Institute of Clinical science, Sahlgrenska Academy, University of Gothenburg, Gothenburg, 40530, Sweden.
Changlian ZhuHenan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, Department of Pediatrics, The Third Affiliated Hospital and Institute of Neuroscience of Zhengzhou University, Zhengzhou, 450052, China. changlian.zhu@neuro.gu.se.
Qinghe XingChildren's Hospital of Fudan University and Institutes of Biomedical Sciences of Fudan University, Shanghai, 200032, China. qhxing@fudan.edu.cn.

Funding

National Key Research and Development Program of China 2021YFC2700800National Natural Science Foundation of China 32170615 and 31972880Science and Technology Commission of Shanghai Municipality 19JC1411000 and 19JC1411001
6 · The paper itself

Abstract

backgroundCerebral palsy (CP) is a neurodevelopmental disorder with a significant male predisposition, yet the underlying genetic mechanisms driving this sex-specific risk remain poorly understood. Given the hemizygous state of X-linked variants in males, we hypothesized that X-chromosomal genetic variations may contribute to CP susceptibility in male patients.

methodsWe performed an X-chromosome-wide association study (XWAS) using whole-exome sequencing (WES) data from 1,076 male CP patients and 1,057 healthy male controls of Chinese ancestry. Quality control, principal component analysis (PCA), and logistic regression were applied to identify risk loci for CP. Six candidate single nucleotide variants (SNVs) in UTP14A were genotyped via MassARRAY, and haplotype analysis was conducted using SHEsis.

resultWe identified a significant association between the intronic variant rs2281277 in UTP14A and CP (P = 1.38E-05, FDR q-value = 0.0465, OR = 0.644). In addition to the lead SNV rs2281277, five other SNVs in UTP14A also showed a suggestive association with CP, including rs141750783, rs61318448, rs2273021, rs2281278, and rs111975985. Haplotype analysis further revealed a risk haplotype (CGTATC) defined by these six SNVs, which was associated with a 53.1% increased susceptibility to CP (P = 9.40E-8, OR = 1.531).

conclusionThis study nominates X-linked UTP14A as a candidate susceptibility locus for CP in male Chinese, which warrants replication based on large, independent cohorts and functional validation.

Indexed as

Cerebral PalsyChromosomes, Human, XGenetic Predisposition to DiseaseChildChild, PreschoolHaplotypesHumansMalePolymorphism, Single NucleotideCerebral palsygenetic susceptibilityhaplotype analysisUTP14AX-chromosome

Identifiers

PMID42399817
PMCPMC13332595

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