5例17p13.3微缺失综合征临床特征分析及疗效评价
收稿日期: 2023-10-26
网络出版日期: 2024-11-08
基金资助
上海市儿童罕见病临床研究中心(20MC1920400);上海市卫生健康委员会临床研究专项(20204Y0348);浦东新区卫健委联合攻关项目(PW2021D-13);上海交通大学医学院儿科学院单病种研究中心项目(ELYZX202107);中央高校基本科研业务费专项资金资助(YG2023QNA35);国家重点研发计划(2022YFC2703102)
Clinical characterization of five children with 17p13.3 microdeletion syndrome and evaluation of their efficacy
Received date: 2023-10-26
Online published: 2024-11-08
目的 探讨17p13.3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433~1 536 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。
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
汪莉波 , 张倩文 , 姚如恩 , 唐怡珺 , 高诗阳 , 李智颖 , 胡斐涵 , 李辛 , 娄丹 , 王秀敏 . 5例17p13.3微缺失综合征临床特征分析及疗效评价[J]. 临床儿科杂志, 2024 , 42(11) : 942 -947 . DOI: 10.12372/jcp.2024.23e1051
Objective The aim of this study was to explore the clinical manifestations, genetic copy number variations, therapeutic responses, and prognostic factors associated with 17p13.3 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 17p13.3 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 433kb to 1536kb deletion within the 17p13.3 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 17p13.3 can result in 17p13.3 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.
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