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Prenatal treatment path for angelman syndrome and other neurodevelopmental disorders

机译:Angelman综合征和其他神经发育障碍的产前治疗路径

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Angelman syndrome (AS) is a rare neurodevelopmental disorder caused by mutation or deletion of the maternally inherited UBE3A allele. These pathogenic mutations lead to loss of maternal UBE3A expression in neurons. Antisense oligonucleotides and gene therapies are in development, which activate the intact but epigenetically silenced paternal UBE3A allele. Preclinical studies indicate that treating during the prenatal period could greatly reduce the severity of symptoms or prevent AS from developing. Genetic tests can detect the chromosome 15q11‐q13 deletion that is the most common cause of AS. New, highly sensitive noninvasive prenatal tests that take advantage of single‐cell genome sequencing technologies are expected to enter the clinic in the coming years and make early genetic diagnosis of AS more common. Efforts are needed to identify fetuses and newborns with maternal 15q11‐q13 deletions and to phenotype these babies relative to neurotypical controls. Clinical and parent observations suggest AS symptoms are detectable in infants, including reports of problems with feeding and motor function. Quantitative phenotypes in the 0‐ to 1‐year age range will permit a more rapid assessment of efficacy when future treatments are administered prenatally or shortly after birth. Although prenatal therapies are currently not available for AS, prenatal testing combined with prenatal treatment has the potential to revolutionize how clinicians detect and treat babies before they are symptomatic. This pioneering prenatal treatment path for AS will lay the foundation for treating other syndromic neurodevelopmental disorders. Autism Res 2020, 13: 11–17 . ? 2019 International Society for Autism Research, Wiley Periodicals, Inc. Lay summary Prenatal treatment could benefit expectant parents whose babies test positive for the chromosome microdeletion that causes Angelman syndrome (AS). Prenatal treatment is predicted to have better outcomes than treating after symptoms develop and may even prevent AS altogether. This approach could generally be applied to the treatment of other syndromic neurodevelopmental disorders.
机译:Angelman综合征(AS)是由突变或缺失母体遗传的UBE3A等位基因引起的罕见神经发育障碍。这些致病性突变导致神经元中母体UBE3a表达的丧失。反义寡核苷酸和基因疗法在开发中,激活完整但外膜沉默的父ube3a等位基因。临床前研究表明,在产前期间治疗可以大大减少症状的严重程度或防止发展。遗传检测可以检测染色体15Q11-Q13删除,这是最常见的原因。利用单细胞基因组测序技术的新型高度敏感的非侵入性产前试验预计将在未来几年进入诊所,并使早期遗传诊断更常见。需要努力鉴定胎儿15Q11-Q13缺失并相对于神经典型对照表型表型。临床和父母观察表明,婴儿中可检测到症状,包括饲养和电机功能问题的报告。当未来治疗在出生后不久或不久施用时,0至1年龄范围内的定量表型将允许更快的疗效评估疗效。虽然产前疗法目前无法使用,但产前检测结合产前治疗有可能彻底改变临床医生在症状之前如何检测和治疗婴儿。这种开创性产前治疗途径为奠定了治疗其他综合征神经发育障碍的基础。自闭症RES 2020,13:11-17。还2019年国际自闭症研究协会,Wiley期刊,Inc。Lay摘要产前治疗可以效益预期的父母,其婴儿针对染色体微缺染阳性的患者导致Angelman综合症(AS)。预测产前治疗比治疗症状发生,甚至可以完全防止葡萄牙治疗。这种方法通常可以应用于其他综合征神经发育障碍的治疗方法。

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