ArticleJournal of medical genetics2021
Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS).
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42 citing papers in PubMed, 2 syntheses or guidelines pooled it, 63 citations in OpenAlex.
- Selecting the Substantially Touched Vertebra as the Lowest Instrumented Vertebra in Spinal Surgeries for B3GALT6 -Related Disorders: Clinical Experience and Literature Review.Orthopaedic surgery · 2025Pooled it
- Exploring the association between specific genes and the onset of idiopathic scoliosis: a systematic review.BMC medical genomics · 2022Pooled it
- Addressing the diagnostic gap through deep phenotyping.Human genomics · 2026Article
- Deciphering the Genetic Basis of Congenital Vertebral Malformations Through a Stepwise Diagnostic Approach.International journal of molecular sciences · 2026Article
- Genetic and embryonic transcriptome analyses reveal the molecular and developmental basis of Mayer-Rokitansky-Küster-Hauser syndrome.Journal of medical genetics · 2026Article
- Correcting PVS1 overestimation: clinical insights into rescue transcripts and variant reclassification in 4 prenatal cases.Frontiers in medicine · 2026Article
- RNA Sequencing Addresses a 5' UTR Variant Leading to X-Linked Agammaglobulinemia and Broader Immune Dysregulation.Journal of clinical immunology · 2025Article
- EPHA4 signaling dysregulation links abnormal locomotion and the development of idiopathic scoliosis.eLife · 2025Article
- Shaping the future of care for patients with Ehlers-Danlos syndromes: from multidisciplinary management to precision medicine.Orphanet journal of rare diseases · 2025Article
- Variants in the SOX9 transactivation middle domain induce axial skeleton dysplasia and scoliosis.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- A rare germline mutation reverses the suppressive effect ofFrontiers in genetics · 2025Article
- Genome sequencing enhances the diagnostic yield and expands the genetic landscape of male breast cancer.Genetics in medicine open · 2025Article
- Rare variant association analyses reveal the significant contribution of carbohydrate metabolic disturbance in severe adolescent idiopathic scoliosis.Journal of medical genetics · 2024Article
- Core planar cell polarity genesProceedings of the National Academy of Sciences of the United States of America · 2024Article
- Somatic mutations in four novel genes contribute to homologous recombination deficiency in breast cancer: a real-world clinical tumor sequencing study.The journal of pathology. Clinical research · 2024Article
- Unraveling the genetic architecture of congenital vertebral malformation with reference to the developing spine.Nature communications · 2024Article
- A Study of Polish Family with Scoliosis and Limb Contractures Expands the MYH3 Disease Spectrum.Genes · 2024Article
- Deciphering the genomic insights into the coexistence of congenital scoliosis and congenital anomalies of the kidney and urinary tract.Frontiers in genetics · 2024Article
- Deciphering the pathogenic role of rareFrontiers in genetics · 2024Article
- COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis.Human molecular genetics · 2023Article
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Authors and funding
62 authors at 7 institutions in 3 countries.
Sen Zhao *Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.ORCID 0000-0001-9418-4231
Yuanqiang Zhang *Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Weisheng Chen *Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Weiyu Li *Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), School of Life Sciences, Shanghai, China.
Shengru Wang *Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Lianlei WangDepartment of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Yanxue ZhaoDepartment of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Mao LinDepartment of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Yongyu YeBeijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
Jiachen LinDepartment of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Yu ZhengSchool of Finance, Southwestern University of Finance and Economics, Chengdu, Sichuan, China.
Jiaqi LiuBeijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
Hengqiang ZhaoDepartment of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Zihui YanDepartment of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Yongxin YangMachine Intelligence Group, University of Edinburgh, Edinburgh, UK.
Yingzhao HuangDepartment of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Guanfeng LinDepartment of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Zefu ChenDepartment of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Zhen ZhangDepartment of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Sen LiuDepartment of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Lichao JinDepartment of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Zhaoyang WangDepartment of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Jingdan ChenBeijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
Yuchen NiuBeijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
Xiaoxin LiBeijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
Yong WuBeijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
Yipeng WangDepartment of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Renqian DuDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Na GaoDepartment of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Hong ZhaoDepartment of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Ying YangDepartment of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Ying LiuDepartment of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Ye TianDepartment of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Wenli LiDepartment of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Yu ZhaoDepartment of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Jia LiuDepartment of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Bin YuDepartment of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Na ZhangDepartment of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Keyi YuDepartment of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Xu YangDepartment of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Shugang LiDepartment of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Yuan XuDepartment of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Jianhua HuDepartment of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Zhe LiuLaboratory of Clinical Genetics, Peking Union Medical College Hospital, Peking UnionMedical College and Chinese Academy of Medical Sciences, Beijing, China.
Jianxiong ShenDepartment of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Shuyang ZhangBeijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
Jianzhong SuSchool of Ophthalmology & Optometry and Eye Hospital, School of BiomedicalEngineering, Wenzhou Medical University, Wenzhou, Zhejiang, China.
Anas M KhanshourCenter for Pediatric Bone Biology and Translational Research, Scottish Rite for Children, Dallas, Texas, USA.
Yared H KidaneCenter for Pediatric Bone Biology and Translational Research, Scottish Rite for Children, Dallas, Texas, USA.
Brandon RamoDepartment of Orthopaedic Surgery, Scottish Rite for Children, Dallas, Texas, USA.
Jonathan J RiosCenter for Pediatric Bone Biology and Translational Research, Scottish Rite for Children, Dallas, Texas, USA.ORCID 0000-0002-0969-2184
Pengfei LiuDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.ORCID 0000-0002-4177-709X
V Reid SuttonDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Jennifer E PoseyDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.ORCID 0000-0003-4814-6765
Zhihong WuBeijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
Guixing Qiu
Carol A WiseCenter for Pediatric Bone Biology and Translational Research, Scottish Rite for Children, Dallas, Texas, USA.
Feng ZhangObstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), School of Life Sciences, Shanghai, China.ORCID 0000-0003-4556-8276
James R LupskiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.ORCID 0000-0002-0969-2184
Jianguo ZhangDepartment of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China dr.wunan@pumch.cn zhangjianguo@pumch.cn.
Nan WuDepartment of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China dr.wunan@pumch.cn zhangjianguo@pumch.cn.ORCID 0000-0002-9429-2889
Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study
Chinese Academy of Medical Sciences & Peking Union Medical College · CNBaylor College of Medicine · USTexas Scottish Rite Hospital for Children · USShanghai Institute of Planned Parenthood Research · CNSouthwestern University of Finance and Economics · CNSun Yat-sen University · CNWenzhou Medical University · CN
Funding
Baylor-Johns Hopkins Center for Mendelian GeneticsU54HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2012 to 2015
$15.6MBaylor-Johns Hopkins Center for Mendelian GeneticsUM1HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2016 to 2020
$14.5MNon-coding/epigenetic regulationP01HD084387 · NICHD · UT SOUTHWESTERN MEDICAL CENTER · PI LILIANNA SOLNICAKREZEL · 2016 to 2026
$14.2MSTRUCTURAL VARIATION IN NEUROLOGICAL DISEASER35NS105078 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI LUPSKI, JAMES R. · 2018 to 2025
$6.0MIndividual genomic analyses to discover the molecular basis and mechanisms contributing to adult-onset diseaseK08HG008986 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI POSEY, JENNIFER ELLEN · 2017 to 2021
$831kNHGRI NIH HHS K08 HG008986NHGRI NIH HHS U54 HG006542NHGRI NIH HHS UM1 HG006542NICHD NIH HHS P01 HD084387NINDS NIH HHS R35 NS105078
Abstract
backgroundEarly-onset scoliosis (EOS), defined by an onset age of scoliosis less than 10 years, conveys significant health risk to affected children. Identification of the molecular aetiology underlying patients with EOS could provide valuable information for both clinical management and prenatal screening.
methodsIn this study, we consecutively recruited a cohort of 447 Chinese patients with operative EOS. We performed exome sequencing (ES) screening on these individuals and their available family members (totaling 670 subjects). Another cohort of 13 patients with idiopathic early-onset scoliosis (IEOS) from the USA who underwent ES was also recruited.
resultsAfter ES data processing and variant interpretation, we detected molecular diagnostic variants in 92 out of 447 (20.6%) Chinese patients with EOS, including 8 patients with molecular confirmation of their clinical diagnosis and 84 patients with molecular diagnoses of previously unrecognised diseases underlying scoliosis. One out of 13 patients with IEOS from the US cohort was molecularly diagnosed. The age at presentation, the number of organ systems involved and the Cobb angle were the three top features predictive of a molecular diagnosis.
conclusionES enabled the molecular diagnosis/classification of patients with EOS. Specific clinical features/feature pairs are able to indicate the likelihood of gaining a molecular diagnosis through ES.
Indexed as
Genetic Predisposition to DiseaseAdolescentAdultAge of OnsetChild, PreschoolChinaCohort StudiesExomeExome SequencingFemaleHumansMaleRetrospective StudiesScoliosisclinical geneticsdiagnosticsgeneticsmolecular genetics
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