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CNV profiles of Chinese pediatric patients with developmental disorders.
Yuan, Haiming; Shangguan, Shaofang; Li, Zhengchang; Luo, Jingsi; Su, Jiasun; Yao, Ruen; Zhang, Shun; Liang, Chen; Chen, Qian; Gao, Zhijie; Zhu, Yanli; Zhang, Shujie; Li, Wei; Lu, Weiliang; Zhang, Yu; Xie, Hua; Liu, Fang; Wang, Qingming; Lin, Yangyang; Liu, Liying; Wang, Xiuming; Liang, Liyang; Zhong, Jianmin; Li, Haibo; Qiu, Haiyan; Zhang, Huifeng; Yan, Mei; Mireguli, Maimaiti; Liu, Yanhui; Zhang, Dan; Wang, Hongying; Lv, Haitao; Xie, Bobo; Gui, Chunrong; Cui, Xiaodai; Zou, Liping; Wang, Jian; Gusella, James F; Shen, Yiping; Chen, Xiaoli.
Afiliação
  • Yuan H; Dongguan Maternal and Child Health Care Hospital, Dongguan, China.
  • Shangguan S; Dongguan Institute of Reproductive and Genetic Research, Dongguan, China.
  • Li Z; Department of Genetics, Capital Institute of Pediatrics, Beijing, China.
  • Luo J; Department of Genetics, Capital Institute of Pediatrics, Beijing, China.
  • Su J; Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
  • Yao R; Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
  • Zhang S; Department of Medical Genetics, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
  • Liang C; Department of Pediatrics, Chinese PLA General Hospital, Beijing, China.
  • Chen Q; Department of Genetics, Capital Institute of Pediatrics, Beijing, China.
  • Gao Z; Department of Neurology, the affiliated hospital of Capital Institute of Pediatrics, Beijing, China.
  • Zhu Y; Department of Neurology, the affiliated hospital of Capital Institute of Pediatrics, Beijing, China.
  • Zhang S; Department of Neurology, the affiliated hospital of Capital Institute of Pediatrics, Beijing, China.
  • Li W; Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
  • Lu W; Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
  • Zhang Y; Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
  • Xie H; Department of Lab center, Capital Institute of Pediatrics, Beijing, China.
  • Liu F; Department of Genetics, Capital Institute of Pediatrics, Beijing, China.
  • Wang Q; Department of Genetics, Capital Institute of Pediatrics, Beijing, China.
  • Lin Y; Dongguan Maternal and Child Health Care Hospital, Dongguan, China.
  • Liu L; Dongguan Institute of Reproductive and Genetic Research, Dongguan, China.
  • Wang X; Dongguan Maternal and Child Health Care Hospital, Dongguan, China.
  • Liang L; Dongguan Institute of Reproductive and Genetic Research, Dongguan, China.
  • Zhong J; Department of Pediatrics, Chinese PLA General Hospital, Beijing, China.
  • Li H; Department of Medical Genetics, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
  • Qiu H; Department of Endocrinology, Shanghai Children Medicine Center, Shanghai, China.
  • Zhang H; Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, China.
  • Yan M; Department of Neurology, Jiangxi Children's Hospital, Nanchang, China.
  • Mireguli M; Central Laboratory of Birth Defects Prevention and Control, Ningbo Women & Children's Hospital, Ninbo, China.
  • Liu Y; Department of Pediatrics, Ningbo Women & Children's Hospital, Ninbo, China.
  • Zhang D; Department of Pediatrics, The Second Hospital of Hebei Medical University, Shijiazhuang, China.
  • Wang H; Department of Pediatrics, First Affiliated Hospital of Xinjiang Medical University, Xinjiang Uygur Autonomous Region, Ürümqi, China.
  • Lv H; Department of Pediatrics, First Affiliated Hospital of Xinjiang Medical University, Xinjiang Uygur Autonomous Region, Ürümqi, China.
  • Xie B; Dongguan Maternal and Child Health Care Hospital, Dongguan, China.
  • Gui C; Dongguan Institute of Reproductive and Genetic Research, Dongguan, China.
  • Cui X; Key Laboratory of Reproductive Genetics (Ministry of Education) and Department of Reproduction, Women's Hospital, Zhejiang University School of Medicine, Hangzhou, China.
  • Zou L; Department of Clinical Laboratory, Children's Hospital of Soochow University, Suzhou, Jiangsu, China.
  • Wang J; Department of Clinical Laboratory, Children's Hospital of Soochow University, Suzhou, Jiangsu, China.
  • Gusella JF; Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
  • Shen Y; Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
  • Chen X; Department of Lab center, Capital Institute of Pediatrics, Beijing, China.
Genet Med ; 23(4): 669-678, 2021 04.
Article em En | MEDLINE | ID: mdl-33402738
ABSTRACT

PURPOSE:

To examine the overall genomic copy-number variant (CNV) landscape of Chinese pediatric patients with developmental disorders.

METHODS:

De-identified chromosomal microarray (CMA) data from 10,026 pediatric patients with developmental disorders were collected for re-evaluating the pathogenic CNV (pCNV) yields of different medical conditions and for comparing the frequency and phenotypic variability of genomic disorders between the Chinese and Western patient populations.

RESULTS:

The overall yield of pCNVs in the Chinese pediatric patient cohort was 21.37%, with variable yields for different disorders. Yields of pCNVs were positively associated with phenotypic complexity and intellectual disability/developmental delay (ID/DD) comorbidity for most disorders. The genomic burden and pCNV yield in neurodevelopmental disorders supported a female protective effect. However, the stratification analysis revealed that it was seen only in nonsyndromic ID/DD, not in nonsyndromic autism spectrum disorders or seizure. Furthermore, 15 known genomic disorders showed significantly different frequencies in Chinese and Western patient cohorts, and profiles of referred clinical features for 15 known genomic disorders were also significantly different in the two cohorts.

CONCLUSION:

We defined the pCNV yields and profiles of the Chinese pediatric patients with different medical conditions and uncovered differences in the frequency and phenotypic diversity of genomic disorders between Chinese and Western patients.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Deficiência Intelectual Tipo de estudo: Prognostic_studies Limite: Child / Female / Humans País/Região como assunto: Asia Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Deficiência Intelectual Tipo de estudo: Prognostic_studies Limite: Child / Female / Humans País/Região como assunto: Asia Idioma: En Ano de publicação: 2021 Tipo de documento: Article