【佳學基因檢測】天使綜合征和其他神經(jīng)發(fā)育障礙的產(chǎn)前治療路徑

基因檢測大約多少錢比較分析

數(shù)據(jù)分析神經(jīng)系統(tǒng)基因?qū)W知識要點獲悉《Autism Res》在. 2020 Jan;13(1):11-17.發(fā)表了一篇題目為《天使綜合征和其他神經(jīng)發(fā)育障礙的產(chǎn)前治療路徑》神經(jīng)系統(tǒng)疾病、神經(jīng)發(fā)育異?；驒z測臨床研究文章。該研究由Mark J Zylka等完成。研究了神經(jīng)發(fā)育障礙通過基因檢測后在產(chǎn)前進行治療的可能性，探索了自閉癥、天使綜合征的正確化治療方案。

神經(jīng)疾病遺傳阻斷及正確治療臨床研究內(nèi)容關鍵詞：

自閉癥,成簇的規(guī)則散布的短回文重復相關蛋白9(CRISPR/Cas9),誘導多能干細胞（iPSC）,類器官

精神類疾病用藥指導基因檢測臨床應用結果

Angelman 綜合征 (AS) 是一種罕見的由母系遺傳的 UBE3A 等位基因突變或缺失引起的神經(jīng)發(fā)育障礙。這些致病突變導致神經(jīng)元中母體 UBE3A 表達的喪失。反義寡核苷酸和基因療法正在開發(fā)中，它們可以激活完整但表觀遺傳沉默的父系 UBE3A 等位基因。臨床前研究表明，在產(chǎn)前治療可以大大降低癥狀的嚴重程度或防止 AS 的發(fā)展?；驒z測可以檢測出 AS 賊常見的染色體 15q11-q13 缺失。利用單細胞基因組測序技術的新的、高度敏感的產(chǎn)前檢測有望在未來幾年進入臨床，并使 AS 的早期基因診斷更加普遍。需要努力識別具有母體 15q11-q13 缺失的胎兒和新生兒，并相對于神經(jīng)典型對照對這些嬰兒進行表型分析。臨床和家長觀察表明，嬰兒可檢測到 AS 癥狀，包括關于喂養(yǎng)和運動功能問題的報告。當未來的治療在產(chǎn)前或出生后不久進行時，0 至 1 歲年齡范圍內(nèi)的定量表型將允許更快速地評估療效。盡管目前尚無針對 AS 的產(chǎn)前治療，但產(chǎn)前檢測與產(chǎn)前治療相結合，有可能有效改變臨床醫(yī)生在嬰兒出現(xiàn)癥狀之前檢測和治療嬰兒的方式。這種開創(chuàng)性的 AS 產(chǎn)前治療途徑將為治療其他綜合征性神經(jīng)發(fā)育障礙奠定基礎。自閉癥研究 2020，13：11-17。 © 2019 國際自閉癥研究協(xié)會，Wiley Periodicals, Inc. 簡述：產(chǎn)前治療可以使準父母受益，其嬰兒的染色體微缺失檢測呈陽性，導致 Angelman 綜合征 (AS)。預計產(chǎn)前治療比癥狀出現(xiàn)后治療有更好的結果，甚至可以有效預防 AS。該方法一般可應用于其他綜合征性神經(jīng)發(fā)育障礙的治療。關鍵詞：自閉癥譜系障礙；出生體重;病例對照研究；流行病學；風險標記。

神經(jīng)及精神疾病及其并發(fā)征、合并征國際數(shù)據(jù)庫描述：

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.