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超越神经发育延迟:与BICRA相关的棺材-西里斯综合征12与严重的肠动性和复发性肺胸部
1Division of Genetics, Department of Pediatrics, School of Medicine, Loma Linda University, 11175 Campus Street, CP 11121E, Loma Linda, CA 92350, USA.
Genes
|January 28, 2026
概括
由BICRA变体引起的Coffin-Siris综合征12 (CSS12),可以导致超出神经发育问题的严重肠道,血管和肺部问题. 这强调了需要全面,终身的患者监测.
科学领域:
- 遗传学和分子生物学
- 发展生物学 发展生物学
- 人类病理学 人类病理学
背景情况:
- 棺材-西里斯综合征12 (CSS12) 是一种神经发育障碍,与BICRA基因中的致病变体有关.
- 比克拉编码非正规BAF (ncBAF) 染色体重塑复合物的一个子单元.
- 目前对CSS12系统表现的理解是有限的,特别是长期数据.
研究的目的:
- 报告一个CSS12病例与新的BICRA变种,并扩大已知的表型谱.
- 调查BICRA哈普隆缺陷症的长期系统表现.
- 阐明BICRA在神经发育之外的更广泛的生物途径中的作用.
主要方法:
- 一名22岁男性的纵向随访,该男性患有新的BICRA框架转移变异 (c.2479_2480delinsA).
- 对神经发育,内分泌,胃肠道,肺和血管系统的临床评估.
- 对BICRA变体的分子分析及其对蛋白质功能的预测影响.
主要成果:
- 该患者表现出全局发育迟缓,生长激素缺乏,身高矮,关节过度移动.
- 在青春期/成年期,严重的肠动性 (需要切除肠道),自发性肺胸病和门静脉血栓形成.
- 这种BICRA变种削减了一个关键的领域,这表明一种影响光滑肌肉和结缔组织的功能丧失机制.
结论:
- 这个病例扩大了与BICRA相关的CSS12的表型谱,包括显著的内脏和血管并发症.
- 比克拉哈普洛缺陷会影响多个系统,包括神经发育,结缔组织,光滑肌肉和血管完整性.
- 对于CSS12患者来说,终身多学科监测至关重要,因为有多种系统参与的潜力.
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