Autistic spectrum disorder and the fragile X premutation
Autistic spectrum disorder and the fragile X premutation
复制标题
DOI：
10.1097/00004703-200412000-00002
复制
发表时间：
2004-12-01
影响因子：
2.4
通讯作者：
Gane, LW
中科院分区：
文献类型：
--
作者：
Goodlin-Jones, BL;Tassone, F;Gane, LW
脆性X综合征（FXS）是智力迟钝最常见的遗传原因。它也是自闭症谱系障碍（ASD）最常见的可识别原因之一。FXS携带者通常被认为在认知和行为上不受影响。然而，我们在这里报告了6个在前突变范围内也患有ASD的个体。与未接受ASD诊断的前突变范围内的五名受试者进行比较。这六名ASD患者的认知能力水平从无损伤到中度发育迟缓不等。讨论包括分子变量的影响，包括降低FMR1蛋白和升高FMR1 mRNA除了环境因素导致复杂的神经发育障碍的ASD。
Fragile X syndrome (FXS) is the most common inherited cause of mental retardation. It is also one of the most common identifiable causes of Autism Spectrum Disorder (ASD). Carriers of FXS are often considered to be cognitively and behaviorally unaffected. However, we report here on six individuals in the premutation range who also have ASD. A comparison is made with five subjects in the premutation range who did not receive a diagnosis of ASD. The six individuals with ASD had a range of cognitive ability levels from no impairment to moderate retardation. Discussion includes the impact of molecular variables including lowered FMR1 protein and elevated FMR1 mRNA in addition to environmental factors leading to the complex neurodevelopmental disorder of ASD.