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在一个患有皮茨-杰格斯综合征的土耳其病人的体质STK11马赛克主义

Mustafa Yilmaz¹, Ogun Bebek², Yavuzhan Colak¹

¹Department of Medical Genetics, Faculty of Medicine, Karadeniz Technical University, Ortahisar Trabzon, Trabzon, 61100, Turkey.

Familial cancer

|June 1, 2024

概括

在STK11基因的马赛克变异,很少描述,在Peutz-Jeghers综合征患者中被发现. 这一发现强调了在遗传诊断中考虑马赛克主义的重要性.

科学领域:

遗传学是一个遗传学.
分子生物学分子生物学

背景情况:

皮茨-杰格斯综合征 (PJS) 是一种自体主导性疾病,通常是由氨酸/氨酸激酶11 (STK11) 基因中的生殖系变异引起的.
虽然生殖系变异很常见,但STK11的马赛克变异很少被报告.

研究的目的:

通过标准基因检测来调查PJS患者的临床症状,但没有可检测的致病变体.
在PJS中识别和描述马赛克STK11变体.

主要方法:

下一代测序 (NGS) 原始数据重新检查马赛克主义.
深度读取水平NGS分析口腔粘膜和多样本.
STK11基因序列分析和多重结合依赖探头放大 (MLPA).

主要成果:

在患者中检测到STK11基因中的新型马赛克c.920+1G>T变异,频率为23%.
在口腔粘膜 (29%) 和多样本 (31%) 中证实了变异频率.
标准的遗传检测方法未能检测出致病变体.

结论:

在具有明确临床标准的PJS病例中,当标准遗传测试呈阴性结果时,应考虑马赛克主义.
检测马赛克STK11变体对于准确的患者管理和亲属的遗传咨询至关重要.

关键词:

在STK11中,STK11就是STK11.哈马托马托型的多体马赛主义 (Mosaicism) 是一个教派.皮茨-杰格斯综合征是什么?

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