[由TMPRSS3复合异基突变引起的晚期遗传性听力损失]
Yueying Wang1, Yue Liang1, Bixue Huang1
1Otorhinolaryngology Hospital,the First Affiliated Hospital,Sun Yat-sen University,Guangzhou,510080,China;Institute of Otolaryngology,Sun Yat-sen University.
概括
基因分析发现了新的TMPRSS3基因突变,导致两个中国家庭的晚期听力损失. 这些发现凸显了监测青少年听力是否存在与TMPRSS3相关的聋的重要性.
科学领域:
- 遗传学 是一个遗传学.
- 耳鼻喉科 耳鼻喉科 耳鼻喉科
- 分子生物学分子生物学
背景情况:
- 晚期开始的听力损失 (LOHL) 在诊断方面是一个重大挑战,特别是当遗传基础未知时.
- 了解LOHL的遗传基础对于准确的诊断和潜在的治疗策略至关重要.
研究的目的:
- 为了确定传感神经听力损失的遗传原因,在两个无关的中国家庭中,晚期发病,逐渐听力损失.
- 描述与青少年发病听力损失相关的TMPRSS3突变的临床和遗传特征.
主要方法:
- 临床数据收集和对来自两个家庭的受影响个体进行声度评估.
- 下一代测序 (NGS) 和桑格测序用于候选基因中的突变检测.
- 在基功能分析和分子建模,以评估已识别的突变的致病性.
主要成果:
- 患者呈现下坡式听力图和严重的中高频听力损失,在第二个十年开始.
- NGS在TMPRSS3基因中发现了三种异构基因突变,包括一种新型突变 (c.383T>C).
- 在基分析中,鉴定到的TMPRSS3突变被归类为致病性或可能致病性.
结论:
- 新的TMPRSS3突变组合在研究的家族中分离出一个独特的听觉表型.
- 这项研究扩大了TMPRSS3相关听力损失的基因型和表型谱.
- 建议在青少年时期对TMPRSS3突变的个体进行早期听力监测.
相关概念视频
Translation
141.8K
Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
141.8K
Pleiotropy
40.3K
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,...
40.3K
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
Incomplete Dominance
22.2K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
22.2K


