相关实验视频

Updated: Jun 5, 2025

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

GNA11 R183C 马赛克主义的表型光谱

Donglin Zhang¹, Luis Fernando Sánchez-Espino^2,3, Marta Ivars⁴

¹Department of Dermatology, School of Medicine and Public Health, University of Wisconsin, Madison, Wisconsin, USA.

Pediatric dermatology

|December 10, 2024

概括

阴性GNA11 R183C变体会导致广泛的毛细管形 (CMs),通常是双边的,并与神经性贫血有关. 玻璃眼和生长差异是常见的,有潜在的leptomeningeal血管病变和发育延迟.

科学领域:

遗传学是一个遗传学.
皮肤病学皮肤病学
血管生物学血管生物学

背景情况:

在GNAQ和GNA11中,后囊炎体质变异与血管异常有关.
与个别G蛋白变体相关的特定临床表型仍未得到充分研究.

研究的目的:

在患有血管异常的患者中描述GNA11 R183C变异的临床特征和皮肤外表现.

主要方法:

一个涉及17名患有血管异常,携带GNA11 R183C变种的多国病例系列.
高深度下一代测序用于突变识别.
数据包括详细的血管异常特征,成像和皮肤外发现.

主要成果:

确定了17名患者 (平均年龄为18岁) 患有体质GNA11 R183C变异.
典型的发现包括广泛的,双边的,划界不清的,粉红色至红色的毛细血管形 (CMs),通常伴有贫血神经 (53%) 和皮肤黑色素细胞 (13.3%).
常见的皮肤外表现包括四肢生长差异 (82%),玻璃眼 (29%) 和精神运动延迟 (29%). 一名患者患有与斯特尔格-韦伯综合征相一致的勒普托门内尔血管瘤.

结论:

该GNA11 R183C变异与一系列不同的毛细血管形 (CMs) 相关,经常呈现为广泛的,双边病变与贫血神经.
玻璃眼和生长差异是常见的并发症.
虽然可以发生勒普托门血管病变和发育迟缓,但与GNAQ相关疾病相比,它们可能不那么普遍或严重.

关键词:

遗传性疾病遗传性疾病这些机制的机制.血管形是因为血管形.

更多相关视频

In Vivo Modeling of the Morbid Human Genome using Danio rerio

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

相关概念视频

Pleiotropy

Pleiotropy

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,...

Hybrid Zones

Hybrid Zones

Hybrid zones are narrow regions where two closely related species interact, mate, and produce hybrids. Relative to either parent species, hybrids may possess distinct phenotypic or genetic differences that impact their survival and reproductive success. The genetic variances introduced by hybridization influence species diversity and speciation processes within the hybrid zone.

Genetic Lingo

Genetic Lingo

Nondisjunction

Nondisjunction

During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.

Incomplete Dominance

Incomplete Dominance

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.

Karyotyping

Karyotyping