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Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study.
Sun, Yu; Peng, Jing; Liang, Desheng; Ye, Xiantao; Xu, Na; Chen, Linlin; Yan, Dan; Zhang, Huiwen; Xiao, Bing; Qiu, Wenjuan; Shen, Yiping; Pang, Nan; Liu, Yingdi; Liang, Chen; Qin, Zailong; Luo, Jingsi; Chen, Fei; Wang, Jingmin; Zhang, Zhixin; Wei, Haiyan; Du, Juan; Yan, Huifang; Duan, Ruoyu; Wang, Junyu; Zhang, Yu; Liao, Shixiu; Sun, Kun; Wu, Lingqian; Yu, Yongguo.
Afiliación
  • Sun Y; Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
  • Peng J; Department of Molecular Genetics, Shanghai Institute for Pediatric Research, Shanghai, China.
  • Liang D; Department of Pediatrics, Xiangya Hospital, Central South University, Changsha, China.
  • Ye X; Clinical Research Center for Children Neurodevelopmental Disabilities of Hunan Province, Xiangya Hospital, Central South University, Changsha, China.
  • Xu N; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, China.
  • Chen L; Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
  • Yan D; Department of Molecular Genetics, Shanghai Institute for Pediatric Research, Shanghai, China.
  • Zhang H; Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
  • Xiao B; Department of Molecular Genetics, Shanghai Institute for Pediatric Research, Shanghai, China.
  • Qiu W; Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
  • Shen Y; Department of Molecular Genetics, Shanghai Institute for Pediatric Research, Shanghai, China.
  • Pang N; Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
  • Liu Y; Department of Molecular Genetics, Shanghai Institute for Pediatric Research, Shanghai, China.
  • Liang C; Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
  • Qin Z; Department of Molecular Genetics, Shanghai Institute for Pediatric Research, Shanghai, China.
  • Luo J; Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
  • Chen F; Department of Molecular Genetics, Shanghai Institute for Pediatric Research, Shanghai, China.
  • Wang J; Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
  • Zhang Z; Department of Molecular Genetics, Shanghai Institute for Pediatric Research, Shanghai, China.
  • Wei H; Genetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
  • Du J; Department of Pediatrics, Xiangya Hospital, Central South University, Changsha, China.
  • Yan H; Clinical Research Center for Children Neurodevelopmental Disabilities of Hunan Province, Xiangya Hospital, Central South University, Changsha, China.
  • Duan R; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, China.
  • Wang J; Department of Medical Genetics, Jiangmen Maternity and Child Health Care Hospital, Jiangmen, China.
  • Zhang Y; Genetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
  • Liao S; Genetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
  • Sun K; Genetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
  • Wu L; Department of Pediatrics, Peking University First Hospital, Beijing, China.
  • Yu Y; Department of Pediatrics, China-Japan Friendship Hospital, Beijing, China.
Hum Mutat ; 43(5): 568-581, 2022 05.
Article en En | MEDLINE | ID: mdl-35143101
ABSTRACT
Genome sequencing (GS) has been used in the diagnosis of global developmental delay (GDD)/intellectual disability (ID). However, the performance of GS in patients with inconclusive results from chromosomal microarray analysis (CMA) and exome sequencing (ES) is unknown. We recruited 100 pediatric GDD/ID patients from multiple sites in China from February 2018 to August 2020 for GS. Patients have received at least one genomic diagnostic test before enrollment. Reanalysis of their CMA/ES data was performed. The yield of GS was calculated and explanations for missed diagnoses by CMA/ES were investigated. Clinical utility was assessed by interviewing the parents by phone. The overall diagnostic yield of GS was 21%. Seven cases could have been solved with reanalysis of ES data. Thirteen families were missed by previous CMA/ES due to improper methodology. Two remained unsolved after ES reanalysis due to complex variants missed by ES, and a CNV in untranslated regions. Follow-up of the diagnosed families revealed that nine families experienced changes in clinical management, including identification of targeted treatments, cessation of unnecessary treatment, and considerations for family planning. GS demonstrated high diagnostic yield and clinical utility in this undiagnosed GDD/ID cohort, detecting a wide range of variant types of different sizes in a single workflow.
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies Límite: Child / Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: China
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies Límite: Child / Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: China