一种新型的STAG1变异与先天性脚和微眼症相关:一个病例报告
Kakha Bregvadze1, Anastasia Sukhiashvili1, Megi Lartsuliani1
1Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia.
SAGE open medical case reports
|September 3, 2024
概括
这项研究确定了一种新的STAG1基因变异,导致一种发育障碍 - - 凝病症. 患者呈现出独特的特征,如脚和微眼症,扩大了对这种罕见疾病的了解.
科学领域:
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
- 发展生物学 发展生物学
背景情况:
- 凝聚蛋白复合体,包括SMC1,SMC3,RAD21和STAG1/STAG2,对于DNA修复和基因调节至关重要.
- 由凝聚素成分的致病变异引起的凝聚素病变,表现为发育迟缓和明显的身体特征.
- STAG1变异与罕见的综合征发育障碍有关,仅记录了有限的病例.
研究的目的:
- 在儿科患者中报告一种新的STAG1变体和相关的表型.
- 扩大对与STAG1相关的合性病变的临床和分子谱的理解.
- 突出表型多样性在凝聚性病变.
主要方法:
- 进行了整个外体序列测序,以确定遗传原因.
- 分析了一名患有新症状的儿科患者的临床数据.
- 进行了文献审查,以将发现与现有案例进行比较.
主要成果:
- 在STAG1基因中发现了一种新的无意义变异 (c.1183C>T,p.(Arg395*).
- 这位患者出现了先天性双侧脚和单侧微眼症,此前在STAG1相关的合症中没有报告.
- 这个案例扩展了与STAG1变异相关的已知临床特征.
结论:
- 已识别的STAG1变种有助于凝聚性病变的频谱.
- 独特的呈现方式强调了STAG1相关疾病的临床异质性.
- 需要进一步的研究,包括基因型-表型相关性,以充分阐明与STAG1相关的合性病变.
相关概念视频
01:43Sex-linked Disorders
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
01:20The Retinoblastoma Gene
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
01:20The Retinoblastoma Gene
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
01:23Mitral Stenosis II: Clinical features and Diagnostic Tests
Mitral stenosis is a heart condition in which the mitral valve, which allows blood to flow from the left atrium to the left ventricle, becomes narrowed or stenotic. This narrowing hinders blood flow and leads to clinical symptoms requiring specific medical evaluations and management strategies. The following overview outlines the clinical symptoms, assessments, diagnostic findings, prevention methods, and treatments for mitral stenosis.Clinical ManifestationsDyspnea (shortness of breath): This...
01:27Cytomegalovirus Disease
Cytomegalovirus (CMV) disease is caused by human cytomegalovirus, a double-stranded DNA virus of the Herpesviridae family. While primary CMV infection is often asymptomatic in immunocompetent individuals, the virus can cause severe disease in neonates and immunocompromised patients. CMV is the most common cause of congenital viral infection in the United States, and a major pathogen in solid organ and hematopoietic stem cell transplant recipients.CMV is transmitted via bodily fluids, sexual...
01:27Diabetic Retinopathy
DefinitionDiabetic retinopathy is a microvascular complication of diabetes affecting the retinal blood vessels.Risk FactorsDiabetic retinopathy is present in almost all individuals with type 1 diabetes and more than 60% of those with type 2 diabetes after two decades of disease.The risk increases with poor glycemic control, hypertension, dyslipidemia, smoking, pregnancy, and puberty.Although cataracts and glaucoma are also more frequent in people with diabetes, retinopathy remains the leading...