Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS).
Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS).
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外显子组测序对早发性脊柱侧凸 (EOS) 的诊断率和临床影响
DOI：
10.1136/jmedgenet-2019-106823
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发表时间：
2021-01
影响因子：
4
通讯作者：
Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study
中科院分区：
文献类型：
--
作者：
Zhao S;Zhang Y;Chen W;Li W;Wang S;Wang L;Zhao Y;Lin M;Ye Y;Lin J;Zheng Y;Liu J;Zhao H;Yan Z;Yang Y;Huang Y;Lin G;Chen Z;Zhang Z;Liu S;Jin L;Wang Z;Chen J;Niu Y;Li X;Wu Y;Wang Y;Du R;Gao N;Zhao H;Yang Y;Liu Y;Tian Y;Li W;Zhao Y;Liu J;Yu B;Zhang N;Yu K;Yang X;Li S;Xu Y;Hu J;Liu Z;Shen J;Zhang S;Su J;Khanshour AM;Kidane YH;Ramo B;Rios JJ;Liu P;Sutton VR;Posey JE;Wu Z;Qiu G;Wise CA;Zhang F;Lupski JR;Zhang J;Wu N;Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study
早发型脊柱侧凸（EOS），定义为脊柱侧凸的发病年龄小于10岁，给受影响的儿童带来重大的健康风险。明确EOS患者的分子病因可为临床治疗和产前筛查提供有价值的信息。方法在本研究中，我们连续招募了447例手术治疗的中国EOS患者。我们对这些个体及其可用的家庭成员（共计670例受试者）进行了外显子组测序（ES）筛查。另一组13例来自美国的特发性早发性脊柱侧凸（IEOS）患者接受了ES。结果经ES数据处理和变异解释后，447例EOS患者中有92例（20.6%）检测到分子诊断变异，其中8例为临床确诊，84例为脊柱侧凸未确诊疾病。来自美国队列的13例IEOS患者中有1例被分子诊断。发病年龄、受累器官系统数量和Cobb角是预测分子诊断的三个主要特征。结论ES可用于EOS的分子诊断和分型。特定的临床特征/特征对能够指示通过ES获得分子诊断的可能性。
Background Early-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. Methods In 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. Results After 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. Conclusion ES 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.
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影响因子：
3.7
作者：
Todd EJ;Yau KS;Ong R;Slee J;McGillivray G;Barnett CP;Haliloglu G;Talim B;Akcoren Z;Kariminejad A;Cairns A;Clarke NF;Freckmann ML;Romero NB;Williams D;Sewry CA;Colley A;Ryan MM;Kiraly-Borri C;Sivadorai P;Allcock RJ;Beeson D;Maxwell S;Davis MR;Laing NG;Ravenscroft G
通讯作者：
Ravenscroft G
影响因子：
9.8
作者：
Bargal, Ruth;Cormier-Daire, Valerie;Raas-Rothschild, Annick
通讯作者：
Raas-Rothschild, Annick
影响因子：
30.8
作者：
Krakow, D;Robertson, SP;Cohn, DH
通讯作者：
Cohn, DH
DOI：
10.2106/jbjs.k.00805
发表时间：
2013-05-15
期刊：
The Journal of bone and joint surgery. American volume
影响因子：
--
作者：
Corona, Jacqueline;Miller, Daniel J;Vitale, Michael G
通讯作者：
Vitale, Michael G
DOI：
10.5435/00124635-200602000-00005
发表时间：
2006-02-01
影响因子：
3.2
作者：
Gillingham, BL;Fan, RA;Akbarnia, BA
通讯作者：
Akbarnia, BA