RASopathies are associated with a distinct personality profile.
RASopathies are associated with a distinct personality profile.
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DOI：
10.1002/ajmg.b.32632
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发表时间：
2018-06
期刊：
影响因子：
--
通讯作者：
Weiss LA
中科院分区：
文献类型：
--
作者：
Bizaoui V;Gage J;Brar R;Rauen KA;Weiss LA
人格是一种复杂但部分可遗传的特征。尽管威廉姆斯-博伊伦综合征等孟德尔疾病与特定的人格特征相关，但研究未能将人格特征归因于单个基因或途径。作为由 Ras/MAPK 通路突变引起的单基因疾病家族，已知会影响社会行为，RASopathies 可能有助于深入了解人格的遗传基础。使用家长报告 BFQ-C（儿童大五问卷）对 80 名被诊断患有心面皮肤综合征、科斯特洛综合征、I 型神经纤维瘤病和努南综合征的受试者以及 55 名未受影响的兄弟姐妹进行评估，评估宜人性、外向性、尽责性、智力/开放性和神经质。添加了一份简短的调查问卷来评估幽默感。使用学生测试、方差分析和主成分分析，对 RASopathy 受试者和兄弟姐妹对照的人格个体组成部分、多维人格概况和个体问题进行比较。与兄弟姐妹对照相比，RAS 病受试者在宜人性、外向性、责任心、开放性和幽默感方面的平均得分较低，而在神经质方面的得分相似。当比较各组之间的多维人格特征时，RASopathies 显示出与未受影响的兄弟姐妹不同的特征，但在 RASopathies 中没有发现这种全局特征的差异，揭示了 Ras/MAPK 相关疾病的共同特征。此外，在各个领域观察到了几种特定综合征的优点或缺点。我们首次描述了单一途径与特定人格概况之间的关联，提供了对人格背后的遗传学的更好理解，并提供了为 RASopathies 患者量身定制教育和行为方法的新工具。
Personality is a complex, yet partially heritable, trait. Although some Mendelian diseases like Williams-Beuren syndrome are associated with a particular personality profile, studies have failed to assign the personality features to a single gene or pathway. As a family of monogenic disorders caused by mutations in the Ras/MAPK pathway known to influence social behavior, RASopathies are likely to provide insight into the genetic basis of personality. 80 subjects diagnosed with cardiofaciocutaneous syndrome, Costello syndrome, neurofibromatosis type I and Noonan syndrome were assessed using a parent-report BFQ-C (Big-Five Questionnaire for Children) evaluating agreeableness, extraversion, conscientiousness, intellect/openness, and neuroticism, along with 55 unaffected sibling controls. A short questionnaire was added to assess sense of humor. RASopathy subjects and sibling controls were compared for individual components of personality, multidimensional personality profiles, and individual questions using Student tests, analysis of variance, and principal component analysis. RASopathy subjects were given lower scores on average compared to sibling controls in agreeableness, extraversion, conscientiousness, openness and sense of humor, and similar scores in neuroticism. When comparing the multidimensional personality profile between groups, RASopathies showed a distinct profile from unaffected siblings, but no difference in this global profile was found within RASopathies, revealing a common profile for the Ras/MAPK-related disorders. In addition, several syndrome-specific strengths or weaknesses were observed in individual domains. We describe for the first time an association between a single pathway and a specific personality profile, providing a better understanding of the genetics underlying personality, and new tools for tailoring educational and behavioral approaches for individuals with RASopathies.
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