一个创始人DBR1变种导致一种致命的先天性 ichthyosis 的形式
Hanan E Shamseldin1, Mukunth Sadagopan2, Javier Martini2
1Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Human genetics
|September 1, 2023
概括
一种新型的DBR1基因变异导致严重的发育障碍,带有化症类皮肤症状和早期死亡,与以前已知的DBR1相关脑炎不同. 这一发现扩大了我们对DBR1缺乏障碍的理解.
科学领域:
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
- 发育生物学 发展生物学
背景情况:
- DBR1编码的是人类的拉里亚特分支酶,这对RNA处理至关重要.
- DBR1缺乏与免疫系统的先天性错误有关,导致儿科脑干脑炎.
- 一个创始人衰退的DBR1变体定义了一个独特的等位基性疾病.
研究的目的:
- 描述一种与DBR1相关的新型发育障碍.
- 为了区分这种情况与与DBR1相关的脑炎易感性.
- 为了研究DBR1缺陷中的基因型-表型相关性.
主要方法:
- 对四个具有创始DBR1变异 (c.200A>G) 的家族进行遗传分析.
- 对受影响个体的临床评估,注意早产,子宫内生长缺陷,和类似于 Ichthyosis 的表现.
- 对患者衍生纤维细胞的生物化学分析,包括RNA内核积和DBR1蛋白水平通过免疫细胞.
主要成果:
- 鉴定了一种由创始人衰退DBR1变体引起的独特的等位基性疾病.
- 一致的特征包括严重的子宫内生长缺陷,先天性 ichthyosis-like呈现,和早期死亡率.
- 患者的纤维细胞显示了内流积和降低DBR1蛋白水平.
- 这种新型疾病似乎与与DBR1相关的脑炎易感性不同.
结论:
- 提出了一种与DBR1相关的新型发育障碍,其特征是严重的生长问题和类似于 Ichthyosis 的症状.
- 这种情况与与DBR1相关的脑炎易感性不同.
- 在这种新型疾病中,DBR1缺乏的程度可能与临床表现无关.
相关概念视频
01:33Pleiotropy
40.6K
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,...
40.6K
02:41Lethal Alleles
15.5K
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...
15.5K
01:43Incomplete Dominance
22.8K
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.
22.8K
01:11Genetic Lingo
103.1K
Overview
103.1K
01:35Pedigree Analysis
84.4K
Overview
84.4K