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扩大PROS的表型谱:重新分类孤立的横向过度生长

Andrea Gazzin^1,2, Giuseppe Reynolds³, Stefania Massuras²

¹Department of Public Health and Pediatric Sciences, University of Turin, Torino, Italy.

Journal of medical genetics

|January 27, 2025

概括

孤立的横向过度生长 (ILO) 可能是PIK3CA相关的过度生长谱 (PROS) 的表现. 这项研究在ILO患者中发现了PIK3CA变异,强调了诊断这种疾病时需要进行遗传测试的必要性.

科学领域:

遗传学是一个遗传学.
儿科儿科儿科
皮肤病学皮肤病学

背景情况:

侧向过度生长 (LO) 涉及不对称的身体尺寸增加,经常在像贝克威斯-维德曼谱和PIK3CA相关过度生长谱 (PROS) 这样的综合症中看到.
LO也可能以孤立的横向过度生长 (ILO) 的形式发生,这给诊断带来了挑战.
准确的LO病因诊断对于适当的临床管理和治疗策略至关重要.

研究的目的:

为了向国际劳工组织报告两名被诊断患有PROS的儿科患者.
调查这些患者的ILO遗传基础.
强调将国际劳工组织纳入PROS的范围的重要性.

主要方法:

对两名患有ILO的儿科患者进行了纵向随访.
从皮肤活检中提取的DNA的分子分析.
在两个患者中确定了PIK3CA:c.263G>A (p.Arg88Gln) 变异.

主要成果:

两位患有ILO的患者均被诊断为PROS.
在他们的皮肤活检中检测到PIK3CA:c.263G>A (p.Arg88Gln) 变体的高变异性等位基因频率.
这种PIK3CA变异,此前与大脑毛细血管形综合征有关,首次与国际劳工组织有关.

结论:

这是第一份报告,将PIK3CA (p.Arg88Gln) 变种与孤立的横向过度生长 (ILO) 联系起来.
它强调了将国际劳工组织纳入PROS的诊断考虑中的重要性.
身体DNA测试对于早期和准确的分子诊断至关重要,为ILO指导向治疗.

关键词:

诊断诊断诊断诊断诊断马赛主义 (Mosaicism) 是一个教派.

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