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TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model

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收录情况： ◇ SCIE

作者：
Liu, J[a] * ; Wu, N[a] ; Yang, N[f] ; Takeda, K[i] ; Chen, W[a] ; Li, W[f] ; Du, R[e] ; Liu, S[a] ; Zhou, Y[b] ; Zhang, L[f] ; Liu, Z[b,m] ; Zuo, Y[a] ; Zhao, S[a] ; Blank, R[n] ; Pehlivan, D[e] ; Dong, S[f] ; Zhang, J[a] ; Shen, J[a] ; Si, N[o] ; Wang, Y[a] ; Liu, G[a] ; Li, S[a] ; Zhao, Y[a] ; Zhao, H[a] ; Chen, Y[a] ; Song, X[e] ; Hu, J[a] ; Lin, M[a] ; Tian, Y[a] ; Yuan, B[e] ; Yu, K[a] ; Niu, Y[b] ; Yu, B[a] ; Li, X[b] ; Chen, J[a] ; Yan, Z[a] ; Zhu, Q[a] ; Meng, X[o] ; Chen, X[r] ; Su, J[s] ; Zhao, X[o] ; Wang, X[p] ; Ming, Y[t] ; Raggio, C.L[v] ; Zhang, B[a] ; Weng, X[a] ; Zhang, S[b] ; Zhang, X[b] ; Watanabe, K[j] ; Matsumoto, M[j] ; Jin, L[f] ; Shen, Y[x] ; Sobreira, N.L[z] ; Posey, J.E[e] ; Giampietro, P.F[aa] ; Valle, D[z] ; Liu, P[e] ; Wu, Z[b] ; Ikegawa, S[i] ; Lupski, J.R[e] ; Zhang, F[f] ; Qiu, G[a] ; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study;Japan Early Onset Scoliosis Research Group;Baylor-Hopkins Center for Mendelian Genomics ;
机构： [a]Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China [b]Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China [c]Department of Breast Surgical Oncology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China [d]Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, China [e]Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States [f]Obstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering at School of Life Sciences, Institute of Metabolism and Integrative Biology, Fudan University, Shanghai, China [g]NHC Key Laboratory of Reproduction Regulation, Shanghai Institute of Planned Parenthood Research, Fudan University, Shanghai, China [h]Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai, China [i]Laboratory of Bone and Joint Diseases, Center for Integrative Medical Sciences, RIKEN, Tokyo, Japan [j]Department of Orthopedic Surgery, Keio University School of Medicine, Tokyo, Japan [k]Graduate School of Peking Union Medical College, Beijing, China [l]Department of Internal Medicine, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China [m]Department of Neurosurgery, Xuanwu Hospital, Capital Medical University, Beijing, China [n]Department of Medicine, Medical College of Wisconsin, Milwaukee, WI, United States [o]The McKusick–Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China [p]The State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China [q]Department of Central Laboratory, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China [r]Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China [s]College of Biomedical Engineering, The Eye Hospital, Wenzhou Medical University, Wenzhou, Zhejiang, China [t]PET-CT Center, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China [u]Department of Radiology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China [v]Department of Orthopedic Surgery, Hospital for Special Surgery, New York, NY, United States [w]Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China [x]Division of Genetics and Genomics, Boston Children’s Hospital, Boston, MA, United States [y]Harvard Medical School, Boston, MA, United States [z]McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, United States [aa]Department of Pediatrics, Drexel University College of Medicine, Philadelphia, PA, United States [ab]Baylor Genetics Laboratory, Houston, TX, United States [ac]Departments of Pediatrics, Baylor College of Medicine, Houston, TX, United States [ad]Texas Children’s Hospital, Houston, TX, United States
出处：
DOI： 10.1038/s41436-018-0377-x
ISSN：

关键词： 16p11 2/TBX6 compound inheritance model congenital scoliosis (CS) gene dosage genotype-phenotype correlation

摘要：
Purpose: To characterize clinically measurable endophenotypes, implicating the TBX6 compound inheritance model. Methods: Patients with congenital scoliosis (CS) from China(N = 345, cohort 1), Japan (N = 142, cohort 2), and the United States (N = 10, cohort 3) were studied. Clinically measurable endophenotypes were compared according to the TBX6 genotypes. A mouse model for Tbx6 compound inheritance (N = 52) was investigated by micro computed tomography (micro-CT). A clinical diagnostic algorithm (TACScore) was developed to assist in clinical recognition of TBX6-associated CS (TACS). Results: In cohort 1, TACS patients (N = 33) were significantly younger at onset than the remaining CS patients (P = 0.02), presented with one or more hemivertebrae/butterfly vertebrae (P = 4.9 × 10 ‒8 ), and exhibited vertebral malformations involving the lower part of the spine (T8–S5, P = 4.4 × 10 ‒3 ); observations were confirmed in two replication cohorts. Simple rib anomalies were prevalent in TACS patients (P = 3.1 × 10 ‒7 ), while intraspinal anomalies were uncommon (P = 7.0 × 10 ‒7 ). A clinically usable TACScore was developed with an area under the curve (AUC) of 0.9 (P = 1.6 × 10 ‒15 ). A Tbx6 -/mh (mild-hypomorphic) mouse model supported that a gene dosage effect underlies the TACS phenotype. Conclusion: TACS is a clinically distinguishable entity with consistent clinically measurable endophenotypes. The type and distribution of vertebral column abnormalities in TBX6/Tbx6 compound inheritance implicate subtle perturbations in gene dosage as a cause of spine developmental birth defects responsible for about 10% of CS. © 2019, American College of Medical Genetics and Genomics.

基金：
National Natural Science Foundation of ChinaNational Natural Science Foundation of China [81822030, 81501852, 81472045, 81772301, 31625015, 31571297, 31771396, 81472046, 81772299, 31521003, 81672123, 7162029]; Beijing Natural Science FoundationBeijing Natural Science Foundation [7162029, 7172175]; Beijing Nova ProgramBeijing Municipal Science & Technology Commission [Z161100004916123]; Beijing Nova Program Interdisciplinary Collaborative Project [xxjc201717]; 2016 Milstein Medical Asian American Partnership Foundation Fellowship Award in Translational Medicine; Central Level Public Interest Program for Scientific Research Institute [2016ZX310177]; Fundamental Research Funds for the Central UniversitiesFundamental Research Funds for the Central Universities [3332016006]; Chinese Academy of Medical Sciences (CAMS) Initiative Fund for Medical Sciences [2016-I2M-3-003, 2016-I2M-2-006, 2017-I2M-2-001]; Distinguished Youth Foundation of Peking Union Medical College Hospital [JQ201506]; PUMCH Science Fund for Junior Faculty [PUMCH-2016-1.1]; National Key Research and Development Program of China [2016YFC0901501]; Japan Agency for Medical Research and Development (AMED)Japan Agency for Medical Research and Development (AMED) [17ek0109280h0001, 17824969]; Japan Orthopedics and Traumatology Research Foundation [358]; US National Institutes of Health, National Institute of Neurological Disorders and StrokeUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Institute of Neurological Disorders & Stroke (NINDS) [NINDS R01 NS058529, R35 NS105078]; National Human Genome Research Institute/National Heart, Lung, and Blood Institute [NHGRI/NHLBI UM1 HG006542]; National Human Genome Research InstituteUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Human Genome Research Institute (NHGRI) [NHGRI K08 HG008986]; PUMC Youth Fund
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外文
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出版当年[2018]版：
大类 | 1 区 医学
小类 | 1 区 遗传学
最新[2025]版：
大类 | 1 区 医学
小类 | 1 区 遗传学
JCR分区：
出版当年[2017]版：
Q1 GENETICS & HEREDITY
最新[2023]版：
Q1 GENETICS & HEREDITY

影响因子： 最新[2023版] 最新五年平均 出版当年[2017版] 出版当年五年平均 出版前一年[2016版] 出版后一年[2018版]

第一作者：
第一作者机构： [a]Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China
推荐引用方式(GB/T 7714)：
Liu J,Wu N,Yang N,et al.TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model[J].Genetics in Medicine.2019,21(7):1548-1558.doi:10.1038/s41436-018-0377-x.
APA：
Liu, J,Wu, N,Yang, N,Takeda, K,Chen, W...&Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study;Japan Early Onset Scoliosis Research Group;Baylor-Hopkins Center for Mendelian Genomics.(2019).TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model.Genetics in Medicine,21,(7)
MLA：
Liu, J,et al."TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model".Genetics in Medicine 21..7(2019):1548-1558

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