双胞胎具有致病性RNF113A变异呈现丸回归综合征
Ortal Resnick1, Giovanna Beauchamp1
1Division of Pediatric Endocrinology and Diabetes, University of Alabama at Birmingham, Birmingham, AL 35233, USA.
JCEM case reports
|February 13, 2026
概括
罕见的X链接RNF113A疾病会导致神经发育和内分泌问题. 这项研究将特定的RNF113A变体与46,XY双胞胎的一致症状联系起来,包括丸回归综合征.
科学领域:
- 遗传学 遗传学 是一个
- 内分泌学 在内分泌学.
- 神经发育障碍 神经发育障碍
背景情况:
- 与RNF113A相关的疾病是罕见的X相关疾病.
- 它的特征是神经发育障碍,内分泌异常和淋巴腺失调.
- 以前记录在极少数个体中.
研究的目的:
- 报告46名XY双胞胎兄弟姐妹患有致病性RNF113A变种.
- 扩大RNF113A相关疾病的表型谱.
- 调查RNF113A和丸回归综合征 (TRS) 之间的联系.
主要方法:
- 整体外基因组测序以识别遗传变异.
- 受影响的46,XY双胞胎兄弟姐妹的临床表型.
- 对遗传模式的分析.
主要成果:
- 鉴定出一种由母亲遗传的半性致病性RNF113A变体 (c.901C > T, p.
- 现型包括小头症,体发育不良,难治性,亚临床甲状腺功能障碍症,微,双侧丸回归综合征 (TRS).
- 尽管没有丸组织,但存在产前雄激素暴露的证据;甲状腺功能障碍在婴儿时期发展.
结论:
- 这种RNF113A变种扩大了已知的表型谱.
- 提供了将RNF113A与丸回归综合征 (TRS) 联系起来的证据.
- 强调整体外体测序对于复杂的46,XY性发育障碍具有多系统参与的重要性.
相关概念视频
Regression Toward the Mean
7.2K
Regression toward the mean (“RTM”) is a phenomenon in which extremely high or low values—for example, and individual’s blood pressure at a particular moment—appear closer to a group’s average upon remeasuring. Although this statistical peculiarity is the result of random error and chance, it has been problematic across various medical, scientific, financial and psychological applications. In particular, RTM, if not taken into account, can interfere when...
7.2K
Multiple Regression
4.0K
Multiple regression assesses a linear relationship between one response or dependent variable and two or more independent variables. It has many practical applications.
Farmers can use multiple regression to determine the crop yield based on more than one factor, such as water availability, fertilizer, soil properties, etc. Here, the crop yield is the response or dependent variable as it depends on the other independent variables. The analysis requires the construction of a scatter plot...
Farmers can use multiple regression to determine the crop yield based on more than one factor, such as water availability, fertilizer, soil properties, etc. Here, the crop yield is the response or dependent variable as it depends on the other independent variables. The analysis requires the construction of a scatter plot...
4.0K
Correlation and Regression
3.5K
In statistics, correlation describes the degree of association between two variables. In the subfield of linear regression, correlation is mathematically expressed by the correlation coefficient, which describes the strength and direction of the relationship between two variables. The coefficient is symbolically represented by 'r' and ranges from -1 to +1. A positive value indicates a positive correlation where the two variables move in the same direction. A negative value suggests a...
3.5K
Regression Analysis
8.4K
Regression analysis is a statistical tool that describes a mathematical relationship between a dependent variable and one or more independent variables.
In regression analysis, a regression equation is determined based on the line of best fit– a line that best fits the data points plotted in a graph. This line is also called the regression line. The algebraic equation for the regression line is called the regression equation. It is represented as:
In regression analysis, a regression equation is determined based on the line of best fit– a line that best fits the data points plotted in a graph. This line is also called the regression line. The algebraic equation for the regression line is called the regression equation. It is represented as:
8.4K
Histone Variants at the Centromere
5.1K
Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3...
5.1K
Microsoft Excel: Regression Analysis
1.6K
Regression analysis in Microsoft Excel is a powerful statistical method for examining the relationship between a dependent variable and one or more independent variables. It's used extensively in fields such as economics, biology, and business to predict outcomes, understand relationships, and make data-driven decisions. The most common type is linear regression, which attempts to fit a straight line through the data points to model the relationship between variables.
To perform regression...
To perform regression...
1.6K


