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[对SLC9A7基因的半性c.1042-10G>C变体进行致病性分析和遗传咨询]

Jingyuan Wang¹, Jia Huang, Hongjie Zhu

¹Institute of Medical Genetics, Zhengzhou University People's Hospital, Henan Provincial People's Hospital, Zhengzhou, Henan 450003, China. liuhongyanqhhy@126.com.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

|December 26, 2025

概括

发现SLC9A7 c.1042-10G>C变种是良性的,不影响RNA剪接,在正常的男性中存在. 这一发现有助于为神经发育障碍提供产前遗传咨询.

科学领域:

遗传学遗传学是一个
分子生物学分子生物学
临床遗传学临床遗传学

背景情况:

该SLC9A7基因与神经发育障碍有关.
之前在受影响的个体中发现了一种特定的半形变体c.1042-10G>C.
了解这种变种的致病性对于准确的诊断和咨询至关重要.

研究的目的:

为了评估SLC9A7 c.1042-10G>C变体的临床意义.
为产前遗传咨询提供基于证据的指导,关于这种变种.
确定变异对RNA剪接和基因表达的影响.

主要方法:

在四个家族中进行了全外体测序和副本数变异分析.
桑格测序证实了家族共分离.
反转录PCR和定量PCR评估了RNA剪接和转录表达.

主要成果:

在四个家族中,六个携带该变体的半身的男性被确定为携带该变体.
三名成年男性和两个患有该变异的男性婴儿在表型上是正常的.
一名患有全球发育迟缓的受影响男性携带了这种变体,并携带了另一种致病变体 (HUWE1 c.12283C>G).
该SLC9A7 c.1042-10G>C变种没有影响RNA剪接.
确定NM_001257291.2是胎儿大脑和外周血液中占主导地位的SLC9A7转录.

结论:

这种SLC9A7 c.1042-10G>C变种被归类为良性.
该变种不会改变RNA剪接,并且存在于表型正常的个体中.
这种分类为产前遗传咨询提供了重要的信息.

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