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中华脑科疾病与康复杂志(电子版) ›› 2022, Vol. 12 ›› Issue (06) : 378 -381. doi: 10.3877/cma.j.issn.2095-123X.2022.06.012

病例报告

ADNP基因变异所致Helsmoortel-Van der Aa综合征一例报道并文献复习
夏秦1, 张何威1, 吉永春1, 王巍巍1, 杨心怡1, 霍洪亮1, 曹徐君1, 舒丹丹1, 陶茜1, 谭嘉红1, 顾琴1,()   
  1. 1. 215000 苏州,苏州大学附属儿童医院康复科
  • 收稿日期:2022-04-11 出版日期:2022-12-15
  • 通信作者: 顾琴
  • 基金资助:
    苏州市民生科技(SYSD2020209); 苏州市科教兴卫青年科技项目(KJXW2021027)

Helsmoortel-van der Aa syndrome caused by ADNP gene variation was followed up for 3 years of rehabilitation: a case report and literature review

Qin Xia1, Hewei Zhang1, Yongchun Ji1   

  • Received:2022-04-11 Published:2022-12-15
引用本文:

夏秦, 张何威, 吉永春, 王巍巍, 杨心怡, 霍洪亮, 曹徐君, 舒丹丹, 陶茜, 谭嘉红, 顾琴. ADNP基因变异所致Helsmoortel-Van der Aa综合征一例报道并文献复习[J]. 中华脑科疾病与康复杂志(电子版), 2022, 12(06): 378-381.

Qin Xia, Hewei Zhang, Yongchun Ji. Helsmoortel-van der Aa syndrome caused by ADNP gene variation was followed up for 3 years of rehabilitation: a case report and literature review[J]. Chinese Journal of Brain Diseases and Rehabilitation(Electronic Edition), 2022, 12(06): 378-381.

Helsmoortel-van der Aa综合征又称ADNP综合征,是由ADNP基因变异引起的一种神经发育障碍疾病,多为常染色体显性遗传。临床表现主要为全面发育迟缓(global developmental delay,GDD)、孤独症谱系障碍(autism spectrum disorder,ASD)表现、特殊面容,也可有行为问题、肌张力减退、癫痫发作、喂养困难、睡眠障碍、先天性心脏病、眼科疾病、皮肤问题、乳牙早萌及头颅MR异常等表现。ADNP基因编码的蛋白由几个功能重要的结构域组成,包括9个锌指基序、1个部分谷胱甘肽还蛋白活性位点、1个二部分核定位信号和1个DNA结合同源盒结构域,该结构域包含1个从N端到C端富含亮氨酸的核输出序列。ADNP基因编码活性依赖的神经保护蛋白广泛表达,参与染色质重塑、转录和微管/自噬调控,与细胞的生长和分化有关,影响大脑发育和认知能力,而且与癌症发生风险存在一定相关性[1-2]。本文总结1例以"全面发育迟缓"就诊的Helsmoortel-van der Aa综合征患儿的临床资料、基因检测结果及3年的康复治疗效果,现报道如下。

图1 先证者及先证者父母一代测序验证图
表1 国内ADNP基因变异所致Helsmoortel-van der Aa综合征的临床特征
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