5例17p13.3微缺失综合征临床特征分析及疗效评价  

Clinical characterization of five children with 17 p 13.3 microdeletion syndrome and evaluation of their efficacy

作　　者：汪莉波 张倩文 姚如恩[2,3] 唐怡珺 高诗阳 李智颖 胡斐涵 李辛[1,2] 娄丹[4] 王秀敏[1,2] WANG Libo;ZHANG Qianwen;YAO Ruen;TANG Yijun;GAO Shiyang;LI Zhiying;HU Feihan;LI Xin;LOU Dan;WANG Xiumin(Department of Endocrinology and Metabolism,Department of Medical Genetics,Shanghai Children′s Medical Center Affiliated to Shanghai Jiao Tong University School of Medicine,Shanghai 200127,China;Shanghai Rare Disease Clinical Research Center,Shanghai Children′s Medical Center Affiliated to Shanghai Jiao Tong University School of Medicine,Shanghai 200127,China;Department of Genetic and Molecular Diagnosis,Shanghai Children′s Medical Center Affiliated to Shanghai Jiao Tong University School of Medicine,Shanghai 200127,China;Department of Pediatrics,The First Affiliated Hospital of Henan University of Science and Technology,Henan 471003,China)

机构地区：[1]上海交通大学医学院附属上海儿童医学中心内分泌代谢科/医学遗传科,上海200127 [2]上海交通大学医学院附属上海儿童医学中心上海市罕见病临床研究中心,上海200127 [3]上海交通大学医学院附属上海儿童医学中心遗传分子诊断科,上海200127 [4]河南科技大学第一附属医院儿科,河南471003

出　　处：《临床儿科杂志》2024年第11期942-947,共6页Journal of Clinical Pediatrics

基　　金：上海市儿童罕见病临床研究中心(No.20MC1920400);上海市卫生健康委员会临床研究专项(No.20204Y0348);浦东新区卫健委联合攻关项目(No.PW2021D-13);上海交通大学医学院儿科学院单病种研究中心项目(No.ELYZX202107);中央高校基本科研业务费专项资金资助(No.YG2023QNA35);国家重点研发计划(No.2022YFC2703102)。

摘　　要：目的探讨17 p 13.3微缺失综合征的临床表型、拷贝数变异、治疗及预后。方法回顾性分析5例17p13.3微缺失综合征患儿临床资料、全外显子组测序结果以及治疗效果。结果5例患儿均表现为身材矮小,例3~5合并有心血管异常。全外显子组测序提示所有的患儿均存在17p13.3染色体片段缺失,缺失大小为433~1536 kb,主要包括YWHAE、CRK基因,但不包括PAFAH1B1基因。在排除了生长激素禁忌证后,4例接受了重组人生长激素治疗。矮小症患儿的身高在应用重组人生长激素治疗后初期得到改善,但后期治疗效果欠佳。2例满足手术指征而接受外科手术以纠正先天性心脏畸形。结论17p13.3染色体片段缺失可导致17p13.3微缺失综合征,通过全外显子组测序,可以提高对于存在先天性心脏畸形和/或矮小症的儿童的诊断率,及时采取心血管及身高方面的治疗有助于改善患儿预后。Objective The aim of this study was to explore the clinical manifestations,genetic copy number variations,therapeutic responses,and prognostic factors associated with 17 p 13.3 microdeletion syndrome in pediatric patients.Methods A retrospective analysis was conducted on the clinical profiles,whole exome sequencing data,and therapeutic outcomes of five pediatric cases diagnosed with 17 p 13.3 microdeletion syndrome.Results All 5 patients presented with short stature,and those in cases 3 to 5 also exhibited cardiovascular abnormalities.Whole exome sequencing identified a 433 kb to 1536 kb deletion within the 17 p 13.3 chromosomal region,predominantly affecting the YWHAE and CRK genes without implicating the PAFAH1B1 gene.Following the exclusion of contraindications,cases 1 to 4 were administered recombinant human growth hormone(rhGH).While the initial response to rhGH treatment was promising with improvements in height,the long-term efficacy was suboptimal.Cases 4 and 5 underwent surgical correction for congenital heart disease as indicated.Conclusion Deletion of 17 p 13.3 can result in 17 p 13.3 microdeletion syndrome.Whole exome sequencing is instrumental in the prompt diagnosis of children exhibiting signs of congenital heart disease and/or short stature.Timely and appropriate interventions for cardiovascular and height-related issues are essential for improving the overall prognosis of affected children.

关 键 词：17p13.3微缺失 全外显子组测序 身材矮小 先天性心脏病 

分 类 号：R725.9[医药卫生—儿科]