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首页> 外文期刊>Journal of Autism and Developmental Disorders >Brief Report: Aggression and Stereotypic Behavior in Males with Fragile X Syndrome—Moderating Secondary Genes in a “Single Gene” Disorder
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Brief Report: Aggression and Stereotypic Behavior in Males with Fragile X Syndrome—Moderating Secondary Genes in a “Single Gene” Disorder

机译：简要报告：患有脆性X综合征的男性的侵略性和刻板行为-调节“单基因”疾病中的次级基因

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Although fragile X syndrome (FXS) is a single gene disorder with a well-described phenotype, it is not known why some individuals develop more significant maladaptive behaviors such as aggression or autistic symptoms. Here, we studied two candidate genes known to affect mood and aggression, the serotonin transporter (5-HTTLPR) and monoamine oxidase A (MAOA-VNTR) polymorphisms, in 50 males with FXS ages 8–24 years. Mothers and fathers of participants reported the frequency and severity of aggressive/destructive, self-injurious, and stereotypic behaviors. Polymorphism genotypes were unrelated to age and IQ. Results showed a significant effect of 5-HTTLPR genotype on aggressive/destructive and stereotypic behavior; males with FXS who were homozygous for the high-transcribing long (L/L) genotype had the most aggressive and destructive behavior, and individuals homozygous for the short (S/S) genotype had the least aggression. Those with the L/L genotype also had the highest levels of stereotypic behavior. There was no effect of MAOA-VNTR on behavior; however those with the high-activity, 4-repeat genotype were more likely to be taking SSRI or SNRI medication. This preliminary study prompts consideration of secondary genes that may modify behavioral phenotype expression in neurodevelopmental disorders, even those with a single gene etiology such as FXS.
机译：尽管脆性X综合征（FXS）是具有明确表型的单基因疾病，但尚不知道为什么某些人会出现更严重的适应不良行为，例如攻击性或自闭症。在这里，我们研究了50位FXS年龄为8-24岁的男性中的两个可能影响情绪和攻击性的候选基因，即血清素转运蛋白（5-HTTLPR）和单胺氧化酶A（MAOA-VNTR）多态性。参与者的父亲和母亲报告了侵略性/破坏性，自伤性和定型行为的频率和严重性。基因多态性与年龄和智商无关。结果显示5-HTTLPR基因型对侵略性/破坏性和定型行为有显着影响。高转录长（L / L）基因型为纯合子的FXS男性具有最强的攻击性和破坏性行为，而短（S / S）基因型为纯合子的个体则具有最小的攻击性。具有L / L基因型的人也具有最高的刻板行为。 MAOA-VNTR对行为没有影响；然而，那些具有高活动性，四重复基因型的人更可能服用SSRI或SNRI药物。这项初步研究促使人们考虑可能会改变神经发育障碍中行为表型表达的次级基因，即使是那些具有单一基因病因的患者，例如FXS。

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