Page 86 - 南京医科大学自然版
P. 86

第45卷第6期
               ·824 ·                            南 京    医 科 大 学 学         报                        2025年6月


              挥重要作用，能补充 CMA 无法检测的单基因变异，                              yield and novel candidate genes for neurodevelopmental
              弥补传统诊断技术的不足。随着变异数据库的持                                  disorders by exome sequencing in an unselected cohort
              续扩充以及解释技术的不断优化升级，对WES数据                                with microcephaly［J］. BMC Genomics，2023，24（1）：422
              进行再分析将极有可能助力发现新的致病基因以                             ［4］ MANICKAM K，MCCLAIN M R，DEMMER L A，et al.
                                                                     Exome and genome sequencing for pediatric patients with
              及候选基因。这不仅有助于深化对ID/GDD 等疾病
                                                                     congenital anomalies or intellectual disability：an evidence
              发病机制的理解，还将为精准诊断与个性化治疗开
                                                                     ⁃based clinical guideline of the American College of Medi⁃
              拓新的路径。WES 在临床实践中展现出极为广阔                                cal Genetics and Genomics（ACMG）［J］. Genet Med，
              的应用前景，有望在未来进一步推动 ID/GDD 等相                             2021，23（11）：2029-2037
              关疾病诊疗水平的显著提升。                                     ［5］ RIGGS E R，ANDERSEN E F，CHERRY A M，et al. Tech⁃
                  利益冲突声明：                                            nical standards for the interpretation and reporting of con⁃
                  所有作者声明无利益冲突。                                       stitutional copy⁃number variants：a joint consensus recom⁃
                  Conflict of Interests：                             mendation of the American College of Medical Genetics
                  All authors declare no conflicts of interests.     and Genomics（ACMG）and the Clinical Genome Resource
                  作者贡献声明：                                           （ClinGen）［J］. Genet Med，2020，22（2）：245-257
                  傅绿函负责实验设计、文章撰写；施玮负责数据收集；张                     ［6］ GAHL W A，MARKELLO T C，TORO C，et al. The Nation⁃
              胜男负责数据整理和制表；王春莉、郑必霞负责遗传数据分                             al Institutes of Health Undiagnosed Diseases Program：in⁃
              析；贾占军负责研究指导；周玮负责研究指导和论文审阅；张                            sights into rare diseases［J］. Genet Med，2012，14（1）：
              爱华负责研究指导和经费支持。                                         51-59
                  Author’s Contributions：                       ［7］ SRIVASTAVA S，LOVE⁃NICHOLS J A，DIES K A，et al.
                  FU Lühan was responsible for experimental design and arti⁃  Meta⁃analysis and multidisciplinary consensus statement：
              cle writing；SHI Wei was responsible for data collection；  exome sequencing is a first⁃tier clinical diagnostic test for
              ZHANG Shengnan was responsible for data organization and ta⁃  individuals with neurodevelopmental disorders［J］. Genet
              ble preparation；WANG Chunli and ZHENG Bixia were respon⁃  Med，2019，21（11）：2413-2421
              sible for genetic data analysis；JIA Zhanjun was responsible for  ［8］ YAN H F，SHI Z，WU Y，et al. Targeted next generation
              research guidance；ZHOU Wei was responsible for research  sequencing in 112 Chinese patients with intellectual dis⁃
              guidance and paper review；ZHANG Aihua was responsible for  ability/developmental delay：novel mutations and candi⁃
              research guidance and funding support.                 date gene［J］. BMC Med Genet，2019，20（1）：80
                                                                ［9］ NAMBOT S，THEVENON J，KUENTZ P，et al. Clinical
             ［参考文献］
                                                                     whole⁃exome sequencing for the diagnosis of rare disorders
             ［1］ 孙    昱，傅启华，余永国. 高通量测序技术在智力障碍/                       with congenital anomalies and/or intellectual disability：
                   全面发育迟缓中的临床应用［J］. 中华检验医学杂志，                        substantial interest of prospective annual reanalysis［J］.
                   2019，42（2）：84-88                                  Genet Med，2018，20（6）：645-654
                   SUN Y，FU Q H，YU Y G. Clinical application of next  ［10］VAN SLOBBE M，VAN HAERINGEN A，VISSERS L E L
                   generation sequencing in molecular diagnosis of intellec⁃  M，et al. Reanalysis of whole⁃exome sequencing（WES）da⁃
                   tual disability/global developmental delay［J］. Chin J Lab  ta of children with neurodevelopmental disorders in a
                   Med，2019，42（2）：84-88                              standard patient care context［J］. Eur J Pediatr，2024，183
             ［2］ 中华医学会儿科学分会神经学组，中国医师协会神经                            （1）：345-355
                   内科分会儿童神经疾病专业委员会. 儿童智力障碍或                     ［11］MILLER D T，ADAM M P，ARADHYA S，et al. Consen⁃
                   全面发育迟缓病因诊断策略专家共识［J］. 中华儿科杂                        sus statement：chromosomal microarray is a first⁃tier clini⁃
                   志，2018，56（11）：806-810                             cal diagnostic test for individuals with developmental dis⁃
                   The Subspecialty Group of Neurology，Chinese Society of  abilities or congenital anomalies［J］. Am J Hum Genet，
                   Pediatrics，Chinese Medical Association，Project Expert  2010，86（5）：749-764
                   Group of Childhood Neuropathy，China Neurologist Asso⁃  ［12］MOESCHLER J B，SHEVELL M，GENETICS C O. Com⁃
                   ciation. Experts’consensus on the diagnostic strategies of  prehensive evaluation of the child with intellectual dis⁃
                   etiology for intellectual disability or global developmental  ability or global developmental delays［J］. Pediatrics，
                   delay in children［J］. Chinese Journal of Pediatrics，2018，  2014，134（3）：e903⁃18
                   56（11）：806-810                               ［13］TILEMIS F N，MARINAKIS N M，VELTRA D，et al.
             ［3］ WANG C L，ZHOU W，ZHANG L Y，et al. Diagnostic         Germline CNV detection through whole⁃exome sequencing
   81   82   83   84   85   86   87   88   89   90   91