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一个新型的MAMLD1变异在一个新生儿的hypospadias和升高的17-hydroxyprogesterone

Juanjuan Wang¹, Yafeng Sun¹, Qian Deng¹

¹Department of Pediatric Endocrinology and Metabolic Disease, Children's Hospital of Fudan University Anhui Hospital, Wangjiang Road & No.39, Hefei, 230022, Anhui, China.

Hormones (Athens, Greece)

|November 23, 2023

概括

一种新的MAMLD1基因变异与严重的低度和新生儿性发育障碍 (DSD) 的类固醇激素水平变化有关. 基因测试证实了该变种的存在.

科学领域:

遗传学是一个遗传学.
内分泌学在内分泌学.
分子生物学分子生物学

背景情况:

性发育障碍 (DSD) 有复杂的原因,其中涉及MAMLD1基因缺陷.
MAMLD1在生殖腺组织中至关重要;其缺陷可以导致低血压和荷尔蒙失衡.

研究的目的:

通过对DSD进行遗传检测,诊断新生儿患有严重的低血压症和高水平的17-原 (17α-OH).
为了研究新型MAMLD1变异的功能影响.

主要方法:

整体外体和桑格测序用于对患者和父母的基因分析.
使用转染细胞 (HEK293T,NCI-H295R) 进行体外研究,以评估蛋白质表达和基因转录 (MAMLD1,CYP17A1).
模拟分子动力学以建模蛋白质结构和预测生物效应.

主要成果:

鉴定出一种新的异构性MAMLD1变体 (c.1619_1637del),从母亲遗传,导致截断的蛋白质.
该变体没有影响MAMLD1转录,但降低了CYP17A1转录,表明交易活化受损.
截断的MAMLD1蛋白显示出增加的疏水性和不太稳定的结构.

结论:

鉴定到的MAMLD1变种可能会在试验对象中引起严重的低度.
升高的17α-OH可能是由于该变体干扰CYP17A1基因激活的结果.
这一发现扩大了已知的MAMLD1变异的范围,并强调了基因测试在DSD诊断中的重要性.

关键词:

在CYP17A1中.基因检测是一种基因检测.低血压体的情况.马姆尔德 (MAMLD) 是一个

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