Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L

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• 作者：Grace Yoon ; MD¹ ; ² ; ^{grace.yoon@utoronto.ca" class="auth_mail" title="E-mail the corresponding author} ; Zeenat Malam ; PhD³ ; Tara Paton ; PhD³ ; ⁴ ; Christian R. Marshall ; PhD³ ; ⁴ ; Ella Hyatt ; BSc³ ; Zhenya Ivakine ; PhD³ ; Stephen W. Scherer ; PhD³ ; ⁴ ; Kyong-Soon Lee ; MD⁵ ; Cynthia Hawkins ; MD ; PhD⁶ ; Ronald D. Cohn ; MD¹ ; ³ ; on behalf of the Finding of Rare Disease Genes (FORGE) in Canada Consortium Steering Committee^&lowast ; ; Kym M. Boycott ; MD ; PhD ; Jan Friedman ; MD ; PhD ; Jacques Michaud ; MD ; PhD ; Francois Bernier ; MD ; Michael Brudno ; PhD ; Bridget Fernandez ; MD ; Bartha Knoppers ; PhD ; Mark Samuels ; PhD
• 关键词：INF2 ; Inverted formin 2 ; PBS-T ; Phosphate-buffered saline with 0.1%Tween20
• 刊名：The Journal of Pediatrics
• 出版年：2016
• 出版时间：April 2016
• 年：2016
• 卷：171
• 期：Complete
• 页码：313-316.e2
• 全文大小：1174 K

文摘

We describe two infants with hypotonia, absent respiratory effort, and giant mitochondria in neurons due to compound heterozygosity for 2 nonsense mutations of DNM1L. DNM1L has a critical role in regulating mitochondrial morphology and function. This observation confirms the central role of mitochondrial fission to normal human development.