LEO1哈普隆缺陷与发育迟缓和自闭症谱系障碍有关
Emilie C Ung1, Nicholas A Borja2
1John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Journal of human genetics
|September 24, 2025
概括
LEO1基因的罕见变异与神经发育障碍有关. 这项研究确定了一种新的LEO1变体,并证实发育迟缓和自闭症谱系障碍是LEO1相关神经发育状况的核心特征.
科学领域:
- 遗传学 是一个遗传学.
- 神经科学是一个神经科学.
- 分子生物学分子生物学
背景情况:
- LEO1是RNA聚合酶关联因子1复合体 (PAF1C) 的核心子单元,对基因表达至关重要.
- 罕见的LEO1变异被怀疑是神经发育障碍,但由于有限的病例,表型仍然定义不佳.
研究的目的:
- 划分与LEO1变体相关的表型.
- 调查LEO1哈普隆缺陷在神经发育障碍中的作用.
主要方法:
- 描述了一个男性患者在LEO1 (c.446dup) 中出现了一种新的frameshift变异.
- 对所有以前报告的LEO1变异患者进行了全面的表型分析.
主要成果:
- 发育迟缓和自闭症谱系障碍被确定为切断LEO1变异患者的核心特征.
- 还观察到更罕见的临床表现,这表明疾病的范围更广.
结论:
- LEO1哈普隆缺陷被认为是这种神经发育障碍背后的机制.
- 应该将LEO1认定为确定的疾病基因,并纳入神经发育条件的遗传测试小组.
相关概念视频
01:19Autism Spectrum Disorder
981
Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
981
01:33Pleiotropy
43.2K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
43.2K
03:18Non-LTR Retrotransposons
13.2K
As the name suggests, non-LTR retrotransposons lack the long terminal repeats characteristic of the LTR retrotransposons. Additionally, both LTR and non-LTR retrotransposons use distinct mechanisms of mobilization. Non-LTR retrotransposons are further divided into two classes - Long interspersed nuclear elements (LINEs) and short interspersed nuclear elements (SINEs), both of which occur abundantly in most mammals, including humans. Some of the active non-LTR retrotransposons in humans are L1...
13.2K
02:41Lethal Alleles
17.7K
Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
17.7K
01:30Attention-Deficit/Hyperactivity Disorder
776
Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterized by persistent inattention, hyperactivity, and impulsivity. It affects approximately 5-8% of children globally, with around 60-70% of cases persisting into adulthood. ADHD has significant implications for educational attainment, social interactions, and occupational success.
Diagnostic Criteria and Symptoms
To diagnose ADHD, symptoms must manifest before age 12 and be evident across multiple settings....
Diagnostic Criteria and Symptoms
To diagnose ADHD, symptoms must manifest before age 12 and be evident across multiple settings....
776
02:39lncRNA - Long Non-coding RNAs
9.8K
In humans, more than 80% of the genome gets transcribed. However, only around 2% of the genome codes for proteins. The remaining part produces non-coding RNAs which includes ribosomal RNAs, transfer RNAs, telomerase RNAs, and regulatory RNAs, among other types. A large number of regulatory non-coding RNAs have been classified into two groups depending upon their length – small non-coding RNAs, such as microRNA, which are less than 200 nucleotides in length, and long non-coding RNA...
9.8K