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对一种罕见的SETD2疾病的临床见解:关于一种新型变异的报告

Gül Ünsel-Bolat¹, Dilan Genç-Akdağ², Hilmi Bolat²

¹Department of Child and Adolescent Psychiatry, Faculty of Medicine, Balıkesir University, Balıkesir, Türkiye.

Developmental neurobiology

|December 30, 2025

概括

研究人员在患有智力障碍,和ADHD的患者中发现了一种新的SETD2基因变异. 这一发现扩大了已知的SETD2相关疾病的临床范围,这对于遗传咨询至关重要.

科学领域:

遗传学和分子生物学
神经发育障碍神经发育障碍
表观遗传学在表观遗传学中,表观遗传学是指表观遗传学.

背景情况:

该SETD2基因编码一个对H3K36me3修改至关重要的基因甲基转移酶,影响基因转录,RNA剪接和DNA修复.
致病性SETD2变体与像Luscan-Lumish综合征 (LLS),智力发育障碍70 (MRD70) 和Rabin-Pappas综合征 (RAPAS) 这样的综合征有关.
在SETD2相关疾病中精确描述智力障碍严重程度对于遗传咨询至关重要.

研究的目的:

报告患有新型SETD2基因变异的患者.
扩大对与SETD2变异相关的临床表型的理解.

主要方法:

一名17岁男性的临床和遗传评估,该男子有异形特征,,多动症和中度智力障碍.
整体外基因组测序以识别遗传变异.
使用美国医学遗传学和基因组学学院 (ACMG) 的指导方针对已识别的变异进行分类.

主要成果:

在SETD2基因中发现了一种新型的新型异构合无意义变异 (NM_014159.7:c.7084C>T).
该变种被归类为可能致病的.
患者呈现的特征与卢斯坎-卢米什综合征重叠.

结论:

鉴定的SETD2变异扩大了SETD2相关疾病的临床表现的范围.
需要进一步的研究来了解不同SETD2变异的机制基础.
更好的理解将增强SETD2相关疾病患者的遗传咨询和管理策略.

关键词:

包含2 (SETD2) 基因的 SET 域.发育延迟的发展延迟.遗传咨询遗传咨询遗传咨询智力障碍智力障碍是一种智力障碍.神经发育障碍神经发育障碍

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