淋巴 edem 与 CELSR1 在 Phelan-McDermid 综合征中相关
Marie S Smith1, Sara M Sarasua1, Curtis Rogers2
1School of Nursing, Healthcare Genetics Program, Clemson University, Clemson, South Carolina, USA.
Clinical genetics
|May 26, 2023
概括
淋巴影响了5%的费兰-麦克德米德综合征 (PMS) 患者. 较大的缺失 (>4 Mb) 和CELSR1基因缺失是PMS患者发生淋巴的重要危险因素.
科学领域:
- 遗传学 遗传学 是一个
- 罕见疾病 罕见疾病
- 临床医学 临床医学
背景情况:
- 淋巴是各种疾病中公认的并发症.
- 费兰-麦克德米德综合征 (PMS) 或22q13.3删除综合征是一种罕见的遗传疾病,具有已知的神经行为特征.
- 有限的研究已经探索了PMS患者淋巴的发病率和危险因素.
研究的目的:
- 为了研究患有费兰-麦克德米德综合征的个体中淋巴的患病率和临床特征.
- 为了确定与PMS中淋巴相关的遗传因素和删除大小.
- 基于最大的可用数据集,提供PMS中淋巴的全面评估.
主要方法:
- 在PMS-国际注册表中对404个人的临床和遗传数据进行了回顾性审查.
- 统计分析以确定淋巴的患病率及其与缺失大小和特定基因缺失的关联.
- 对受影响个体的一个子集进行详细的临床评估.
主要成果:
- 在PMS队列中,淋巴发症在5%的患者中被发现.
- 缺失大于4Mb的个体和CELSR1基因缺失的个体显示出淋巴瘤的风险明显更高.
- 通常在青春期或成年期观察到淋巴瘤发作,其中5名受试者显示CELSR1缺失,并在8岁后出现症状.
结论:
- 这项研究是迄今为止对菲兰-麦克德米德综合征中淋巴的最大评估.
- 患有PMS和缺失>4 Mb或缺失包括CELSR1基因的个体应对淋巴瘤进行监测.
- 建议在有风险的PMS患者中早期评估和治疗淋巴.
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