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Exome sequencing re...
Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy
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Wang, Yangong (author)
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Xu, Yiran (author)
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Zhou, Chongchen (author)
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Cheng, Ye (author)
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Qiao, Niu (author)
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Shang, Qing (author)
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Xia, Lei (author)
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Song, Juan (author)
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Gao, Chao (author)
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Qiao, Yimeng (author)
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Zhang, Xiaoli (author)
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Li, Ming (author)
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Ma, Caiyun (author)
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Fan, Yangyi (author)
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Peng, Xirui (author)
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Wu, Silin (author)
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Lv, Nan (author)
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Li, Bingbing (author)
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Sun, Yanyan (author)
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Zhang, Bohao (author)
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Li, Tongchuan (author)
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Li, Hongwei (author)
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Zhang, Jin (author)
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Su, Yu (author)
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Li, Qiaoli (author)
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Yuan, Junying (author)
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Liu, Lei (author)
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Moreno-De-Luca, Andres (author)
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Maclennan, Alastair H. (author)
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Gecz, Jozef (author)
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Zhu, Dengna (author)
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- Wang, Xiaoyang, 1965 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för obstetrik och gynekologi,Institute of Clinical Sciences, Department of Obstetrics and Gynecology
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Zhu, Changlian (author)
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Xing, Qinghe (author)
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(creator_code:org_t)
- 2024
- 2024
- English.
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In: NATURE MEDICINE. - 1078-8956 .- 1546-170X. ; 30, s. 1395-1405
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Abstract
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- Cerebral palsy (CP) is the most common motor disability in children. To ascertain the role of major genetic variants in the etiology of CP, we conducted exome sequencing on a large-scale cohort with clinical manifestations of CP. The study cohort comprised 505 girls and 1,073 boys. Utilizing the current gold standard in genetic diagnostics, 387 of these 1,578 children (24.5%) received genetic diagnoses. We identified 412 pathogenic and likely pathogenic (P/LP) variants across 219 genes associated with neurodevelopmental disorders, and 59 P/LP copy number variants. The genetic diagnostic rate of children with CP labeled at birth with perinatal asphyxia was higher than the rate in children without asphyxia (P = 0.0033). Also, 33 children with CP manifestations (8.5%, 33 of 387) had findings that were clinically actionable. These results highlight the need for early genetic testing in children with CP, especially those with risk factors like perinatal asphyxia, to enable evidence-based medical decision-making. Using exome sequencing data from one of the largest cohorts of children with cerebral palsy, the genetic diagnostic rates of single-nucleotide and copy number variants were assessed and a sizeable fraction found to be clinically actionable.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Wang, Yangong
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Xu, Yiran
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Zhou, Chongchen
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Cheng, Ye
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Qiao, Niu
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Shang, Qing
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show more...
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Xia, Lei
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Song, Juan
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Gao, Chao
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Qiao, Yimeng
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Zhang, Xiaoli
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Li, Ming
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Ma, Caiyun
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Fan, Yangyi
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Peng, Xirui
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Wu, Silin
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Lv, Nan
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Li, Bingbing
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Sun, Yanyan
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Zhang, Bohao
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Li, Tongchuan
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Li, Hongwei
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Zhang, Jin
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Su, Yu
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Li, Qiaoli
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Yuan, Junying
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Liu, Lei
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Moreno-De-Luca, ...
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Maclennan, Alast ...
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Gecz, Jozef
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Zhu, Dengna
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Wang, Xiaoyang, ...
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Zhu, Changlian
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Xing, Qinghe
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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NATURE MEDICINE
- By the university
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University of Gothenburg