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由于MKRN3基因突变引起的中部早发性青春期的女孩的MKRN3循环水平

F Aiello¹, S Palumbo², G Cirillo¹

¹Department of Women's and Children's Health and General and Specialized Surgery, University of Campania "Luigi Vanvitelli", Via Luigi De Crecchio 2, 80138, Napoli, Italy.

Journal of endocrinological investigation

|December 19, 2023

概括

循环中的MKRN3蛋白水平无法预测中部早期青春期 (CPP) 患者的MKRN3基因突变,尽管在MKRN3突变载体中观察到的基因突变水平较异常性CPP低. 测试变异性使得无法建立可靠的诊断截止点.

科学领域:

内分泌学在内分泌学.
遗传学是一个遗传学.
儿科内分泌学儿科内分泌学

背景情况:

MKRN3基因的突变是中部早发性青春期 (CPP) 的主要原因.
循环中的MKRN3蛋白水平是可测量的,并且已在异常性CPP和健康对照中进行研究.
已知MKRN3突变患者的MKRN3蛋白水平的数据以前没有.

研究的目的:

在CPP患者中选MKRN3突变.
调查循环MKRN3蛋白水平是否可以作为查工具来识别CPP患者MKRN3突变.

主要方法:

在140名患有CPP的女孩身上进行了MKRN3突变分析.
患者被分为异常性CPP (iCPP) 和MKRN3突变相关的CPP (MKRN3-CPP) 组.
在MKRN3-CPP患者和iCPP患者的一个子集中使用ELISA测量血清MKRN3水平.

主要成果:

确定了5名MKRN3突变的患者,其中包括一个新突变 (p.Gln352Arg).
与iCPP患者相比,MKRN3-CPP患者的循环MKRN3水平显著降低 (p < 0.001).
在各个突变类型中,MKRN3水平显著变化,在某些情况下,水平无法检测.

结论:

循环中的MKRN3水平不足以预测CPP患者MKRN3基因缺陷.
虽然MKRN3突变携带者表现出较低的蛋白质水平比ICPP患者,显著的个体间变异性和缺乏参考值排除建立诊断断断.

关键词:

中心早熟青春期中心早熟青春期孩子孩子孩子孩子这是一个MKRN3MKRN3MKRN3MKRN.分子查分子查突变查突变查突变查血清中的MKRN3

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