预测DIP2C的Haploinsufficiency的De novo变体与表达性语音延迟有关
Thoa Ha1, Angela Morgan2,3,4, Meghan N Bartos5
1Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, USA.
American journal of medical genetics. Part A
|February 29, 2024
概括
磁盘相互作用蛋白2同类C (DIP2C) 基因中的功能丧失变异与发育迟缓有关,主要影响言语和语言. 这项研究支持DIP2C.
科学领域:
- 神经遗传学 神经遗传学
- 发育生物学 发展生物学
- 人类遗传学 人类遗传学
背景情况:
- 包括DIP2C在内的断开 (disco) 相互作用蛋白2 (DIP2) 基因家族,在物种中保存,并在中枢神经系统中表达.
- 虽然建议DIP2C在认知中的作用,但致病变体及其临床意义在很大程度上仍未被描述.
- 以前的研究表明,DIP2在模型生物中的神经元发育和再生中起作用.
研究的目的:
- 调查与异合体DIP2C变体相关的表型和基因型谱.
- 建立DIP2C功能丧失变体与神经发育障碍之间的联系.
- 分析DIP2C变异个体的临床表现,包括发育迟缓,心脏缺陷和面部异常.
主要方法:
- 对23名患有DIP2C变异的个体进行了临床评估和遗传分析.
- 基于预测的功能影响 (功能丧失,错误) 和遗传模式 (de novo,继承) 的变异的分类.
- 使用Brainspan数据分析人类大脑发育期间的DIP2C表达模式.
主要成果:
- 所有23人均出现发育迟缓,主要影响表达性语言和语音表达.
- 八名患者有新的功能丧失变体,而其他人则有遗传或新的错误变体.
- 四名患者表现出心脏缺陷,一些患者表现出轻微的,不一致的面部异常.
结论:
- 在DIP2C中,异合体功能丧失变体与一个独特的神经认知表型有关,其特征是发育迟缓.
- DIP2C在人类神经发育中起着至关重要的作用,特别是在语音和语言学习中.
- 需要进行进一步的研究,以充分阐明DIP2C的功能及其变体相关的疾病谱.
相关概念视频
Single Nucleotide Polymorphisms-SNPs
15.1K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
15.1K
Comparing Copy Number Variations and SNPs
17.7K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
17.7K
Genomic Imprinting and Inheritance
34.4K
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
34.4K
Language and Cognition
345
Language serves as a bridge between ideas and communication, influencing how individuals perceive and interact with the world. Psychologists have long debated whether language shapes thought or vice versa. This discussion gained grip with Edward Sapir and Benjamin Lee Whorf in the 1940s, who proposed that language determines thought, a concept known as linguistic determinism. They suggested that the vocabulary and structure of a language influence how its speakers think and perceive reality.
345
Pleiotropy
40.4K
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,...
40.4K
Alternative RNA Splicing
21.1K
Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
21.1K


