【广东会GDH基因检测】天使综合征和其他神经发育障碍的产前治疗路径

基因检测大约多少钱比较分析

数据分析神经系统基因学知识要点获悉《Autism Res》在. 2020 Jan;13(1):11-17.发表了一篇题目为《天使综合征和其他神经发育障碍的产前治疗路径》神经系统疾病、神经发育异常基因检测临床研究文章。该研究由Mark J Zylka等完成。研究了神经发育障碍通过基因检测后在产前进行治疗的可能性，探索了自闭症、天使综合征的正确化治疗方案。

神经疾病遗传阻断及正确治疗临床研究内容关键词：

自闭症,成簇的规则散布的短回文重复相关蛋白9(CRISPR/Cas9),诱导多能干细胞（iPSC）,类器官

精神类疾病用药指导基因检测临床应用结果

Angelman 综合征 (AS) 是一种罕见的由母系遗传的 UBE3A 等位基因突变或缺失引起的神经发育障碍。这些致病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正在开发中，它们可以激活完整但表观遗传沉默的父系 UBE3A 等位基因。临床前研究表明，在产前治疗可以大大降低症状的严重程度或防止 AS 的发展。基因检测可以检测出 AS 贼常见的染色体 15q11-q13 缺失。利用单细胞基因组测序技术的新的、高度敏感的产前检测有望在未来几年进入临床，并使 AS 的早期基因诊断更加普遍。需要努力识别具有母体 15q11-q13 缺失的胎儿和新生儿，并相对于神经典型对照对这些婴儿进行表型分析。临床和家长观察表明，婴儿可检测到 AS 症状，包括关于喂养和运动功能问题的报告。当未来的治疗在产前或出生后不久进行时，0 至 1 岁年龄范围内的定量表型将允许更快速地评估疗效。尽管目前尚无针对 AS 的产前治疗，但产前检测与产前治疗相结合，有可能有效改变临床医生在婴儿出现症状之前检测和治疗婴儿的方式。这种开创性的 AS 产前治疗途径将为治疗其他综合征性神经发育障碍奠定基础。自闭症研究 2020，13：11-17。 © 2019 国际自闭症研究协会，Wiley Periodicals, Inc. 简述：产前治疗可以使准父母受益，其婴儿的染色体微缺失检测呈阳性，导致 Angelman 综合征 (AS)。预计产前治疗比症状出现后治疗有更好的结果，甚至可以有效预防 AS。该方法一般可应用于其他综合征性神经发育障碍的治疗。关键词：自闭症谱系障碍；出生体重;病例对照研究；流行病学；风险标记。

神经及精神疾病及其并发征、合并征国际数据库描述：

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.Keywords: autism spectrum disorder; birth weight; case-control study; epidemiology; risk markers.