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首页> 外文期刊>Neuropsychiatric Disease and Treatment >Expanded DMPK repeats in dizygotic twins referred for diagnosis of autism versus absence of expanded DMPK repeats at screening of 330 children with autism
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Expanded DMPK repeats in dizygotic twins referred for diagnosis of autism versus absence of expanded DMPK repeats at screening of 330 children with autism

机译：筛查330名自闭症儿童的同卵双生子中扩展的DMPK重复序列被推荐用于自闭症的诊断与不存在扩展的DMPK重复序列的关联

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Myotonic dystrophy type 1 (DM1) belongs to the broad spectrum of genetic disorders associated with autism spectrum disorders (ASD). ASD were reported predominantly in congenital and early childhood forms of DM1. We describe dizygotic twin boys with ASD who were referred for routine laboratory genetic testing and in whom karyotyping, FMR1 gene testing, and single nucleotide polymorphism array analysis yielded negative results. The father of the boys was later diagnosed with suspected DM1, and testing revealed characteristic DMPK gene expansions in his genome as well as in the genomes of both twins and their elder brother, who also suffered from ASD. In accord with previous reports on childhood forms of DM1, our patients showed prominent neuropsychiatric phenotypes characterized especially by hypotonia, developmental and language delay, emotional and affective lability, lowered adaptability, and social withdrawal. The experience with this family and multiple literature reports of ASD in DM1 on the one side but the lack of literature data on the frequency of DMPK gene expansions in ASD patients on the other side prompted us to screen the DMPK gene in a sample of 330 patients with ASD who were first seen by a geneticist before they were 10 years of age, before the muscular weakness, which may signal DM1, usually becomes obvious. The absence of any DMPK gene expansions in this cohort indicates that targeted DMPK gene testing can be recommended only in ASD patients with specific symptoms or family history suggestive of DM1.
机译：1型强直性肌营养不良症（DM1）属于与自闭症谱系障碍（ASD）相关的广泛遗传病。据报道，ASD主要以先天性和儿童早期形式的DM1报道。我们描述了ASD的同卵双生男孩，他们曾接受常规实验室基因检测，并在其中进行了核型分析，FMR1基因检测和单核苷酸多态性阵列分析，结果均为阴性。男孩的父亲后来被诊断出怀疑患有DM1，测试显示他的基因组以及双胞胎和其哥哥也患有ASD的基因组中特征性的DMPK基因扩增。与先前有关DM1的儿童期形式的报道一致，我们的患者表现出突出的神经精神病学表型，尤其表现为肌张力低下，发育和语言延迟，情绪和情感不佳，适应性降低和社交退缩。一方面有该家族的经验，另一方面有关于DM1中ASD的大量文献报道，但另一方面，缺乏有关ASD患者中DMPK基因扩增频率的文献数据，促使我们筛选了330例患者的DMPK基因患有ASD的人通常在10岁以下，遗传性肌无力（这可能标志着DM1）出现之前才首次被10岁以下的人发现。该队列中没有任何DMPK基因扩展，表明仅在具有特定症状或提示DM1的家族病史的ASD患者中可以推荐靶向DMPK基因检测。

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