NEJM：基因测序发现一种新型儿童智力障碍---碳酸酐酶VA缺乏症

2016-05-28 MedSci MedSci原创

英属哥伦比亚大学BC儿童医院的科学家们通过外显子测序精确诊断了一些智力障碍背后的遗传疾病，发现了与已知疾病有关的新基因、新体征和新症状。这一突破性成果5月25日先期发表在顶级医学期刊《新英格兰医学》上，首次展示外显子测序能够改变智力障碍儿童的一生。智力障碍是一个比较复杂的问题。有些儿童的智力障碍是因为某种罕见遗传病干扰了机体的代谢功能。这种代谢障碍会使大脑和机体出现能量缺陷和有毒物质累积，最终导致

英属哥伦比亚大学BC儿童医院的科学家们通过外显子测序精确诊断了一些智力障碍背后的遗传疾病，发现了与已知疾病有关的新基因、新体征和新症状。这一突破性成果5月25日先期发表在顶级医学期刊《新英格兰医学》上，首次展示外显子测序能够改变智力障碍儿童的一生。

智力障碍是一个比较复杂的问题。有些儿童的智力障碍是因为某种罕见遗传病干扰了机体的代谢功能。这种代谢障碍会使大脑和机体出现能量缺陷和有毒物质累积，最终导致发育迟缓、认知缺陷、癫痫和器官功能不全。在细胞水平靶标代谢紊乱对这类疾病是很有帮助的，比如调整膳食、补充维生素、服用药物和骨髓移植。早期干预能为这些患儿提供很大的帮助，显著改善他们和家人的生活质量。

BC儿童医院的数十名儿童可能就遇到了上述问题，但传统方法无法给他们确诊。研究人员对这些患儿及其家人进行了代谢组学分析和全外显子组测序。他们在此基础上确诊了68%的患儿，为40%的患儿提供了有针对性的治疗。

研究人员通过测序发现了一种新遗传疾病——碳酸酐酶VA缺乏症。这种疾病出现在幼儿时期，患儿无法正确分解蛋白导致体内血氨过高，最终引起致命的嗜睡和昏迷。研究人员指出，药物carglumic acid能够防止这种疾病造成大脑损伤。研究人员还发现了一种新代谢疾病——谷草转氨酶2缺乏症。这种疾病主要影响大脑，表现为小头、癫痫和发育迟缓。用丝氨酸和维生素B6治疗可以改善患儿的症状。

原始出处：
Maja Tarailo-Graovac, Ph.D., Casper Shyr, Ph.D., Colin J. Ross, Ph.D., Gabriella A. Horvath, M.D., Ph.D., Ramona Salvarinova, M.D., Xin C. Ye, M.Sc., Lin-Hua Zhang, Ph.D., Amit P. Bhavsar, Ph.D., Jessica J.Y. Lee, B.Sc., Britt I. Drögemöller, Ph.D., Mena Abdelsayed, Ph.D., Majid Alfadhel, M.D., Linlea Armstrong, M.D., Matthias R. Baumgartner, M.D., Ph.D., Patricie Burda, Ph.D., Mary B. Connolly, M.D., Jessie Cameron, Ph.D., Michelle Demos, M.D., Tammie Dewan, M.D., Janis Dionne, M.D., A. Mark Evans, Ph.D., Jan M. Friedman, M.D., Ph.D., Ian Garber, M.D., Suzanne Lewis, M.D., Ph.D., Jiqiang Ling, Ph.D., Rupasri Mandal, Ph.D., Andre Mattman, M.D., Margaret McKinnon, M.D., Aspasia Michoulas, M.D., Daniel Metzger, M.D., Oluseye A. Ogunbayo, Ph.D., Bojana Rakic, Ph.D., Jacob Rozmus, M.D., Peter Ruben, Ph.D., Bryan Sayson, B.Sc., Saikat Santra, M.D., Kirk R. Schultz, M.D., Kathryn Selby, M.D., Paul Shekel, Ph.D., Sandra Sirrs, M.D., Cristina Skrypnyk, M.D., Andrea Superti-Furga, M.D., Ph.D., Stuart E. Turvey, M.D., Ph.D., Margot I. Van Allen, M.D., David Wishart, Ph.D., Jiang Wu, Ph.D., John Wu, M.D., Dimitrios Zafeiriou, M.D., Ph.D., Leo Kluijtmans, Ph.D., Ron A. Wevers, Ph.D., Patrice Eydoux, Ph.D., Anna M. Lehman, M.D., Hilary Vallance, M.D., Sylvia Stockler-Ipsiroglu, M.D., Ph.D., Graham Sinclair, Ph.D., Wyeth W. Wasserman, Ph.D., and Clara D. van Karnebeek, M.D., Ph.D. Exome Sequencing and the Management of Neurometabolic Disorders. May 25, 2016DOI: 10.1056/NEJMoa1515792

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2016-10-14 ylzr123

拜读了，受益匪浅，点个赞！

100 0
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2016-05-30 丁丁医生2002

加油，非常好

86 0
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2016-05-30 mgqwxj

#智力障碍#

77 0
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2016-05-28 medcardio

重大发现，主要找到治疗策略

145 0

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