智力障碍和全尺度智力系数和突变特征之间的基因型-表型相关性,在患有肌肉变化症的男孩中
Indar Kumar Sharawat1, Diksha Gupta1, Aman Elwadhi1
1Pediatric Neurology Division, Department of Pediatrics, All India Institute of Medical Sciences, Rishikesh, Uttarakhand 249203, India.
Brain & development
|March 28, 2025
概括
患有骨质疏松症的男孩的智商 (IQ) 比健康的同龄人低. 认知障碍在Dp71异型患者中更严重,突出了关键的基因型-表型相关性.
科学领域:
- 神经学 神经学
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
背景情况:
- 与一般人群相比,肌痛性肌痛病患者经常显示智商系数 (FSIQ) 降低.
- 缺乏关于印度肌痛性肌痛病患者认知功能的大规模纵向研究.
研究的目的:
- 为了比较患有骨质疏松症的儿童的认知能力与印度的健康对照.
- 为了研究智商的纵向变化,并探索基因型-表型相关性,特别是不同类型的素异型对认知状态的影响.
主要方法:
- 使用马林印度儿童智力量表 (MISIC) 对154名 (6至16岁) 肌病男孩和77名对照进行口头,表现和FSIQ的前性比较.
- 在经过至少一年的随访后,重复对患有骨质疏松症的男孩进行认知评估.
- 基于DP427,DP140和DP71异型的基因型-表型相关性分析以及其他临床/遗传预测因子的探索.
主要成果:
- 与对照组相比,肌痛发育不良症组的口头,表现和FSIQ分数明显较低 (p < 0.001).
- 悖论的是,表现性智商在失调症组 (p = 0.008) 中高于口头智商.
- Dp71异型与显著较低的智商相关,并被确定为智力障碍的独立预测因素;纵向随访显示非显著的FSIQ减少.
结论:
- 与健康对照人群相比,患有骨质疏松症的男孩的智商显著降低.
- 认知障碍在患有Dp71异型的肌肉衰竭病例中更为明显.
- 在这个人群中,DP71异型是智力障碍的独立预测因子.
相关概念视频
Sex-linked Disorders
99.2K
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.
99.2K
Mutations
77.8K
Overview
77.8K
Pleiotropy
38.8K
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,...
38.8K
X-linked Traits
52.3K
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
52.3K
Pedigree Analysis
83.2K
Overview
83.2K
Genetic Lingo
98.8K
Overview
98.8K


