De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome.,Genetics in Medicine

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De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome.
Genetics in Medicine ( IF 6.6 ) Pub Date : 2018-Oct-08 , DOI: 10.1038/s41436-018-0323-y
Gregory Costain ₁ , Bert Callewaert ₂ , Heinz Gabriel ₃ , Tiong Y Tan ₄ , Susan Walker _{5,

6} , John Christodoulou _{4,

7} , Tamas Lazar ₈ , Björn Menten ₂ , Julia Orkin _{9,

10,

11} , Simon Sadedin ₄ , Meaghan Snell _{1,

12} , Arnaud Vanlander ₁₃ , Sarah Vergult ₂ , Susan M White ₄ , Stephen W Scherer _{5,

6,

14} , Robin Z Hayeems _{11,

12} , Susan Blaser ₁₅ , Shoshana J Wodak ₈ , David Chitayat _{1,

16} , Christian R Marshall _{5,

12,

17,

18} , M Stephen Meyn _{1,

9,

12,

14,

19}

Affiliation

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Center for Genomics and Transcriptomics, Eberhard Karls University of Tübingen, Tübingen, Germany.
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, & Department of Paediatrics, University of Melbourne, Melbourne, Australia.
The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.
Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
Neurodevelopmental Genomics Research Group, Murdoch Children's Research Institute, Melbourne, Australia.
VIB-VUB Structural Biology Research Center, Brussels, Belgium.
Department of Paediatrics, University of Toronto, Toronto, ON, Canada.
Division of Paediatric Medicine, The Hospital for Sick Children, Toronto, ON, Canada.
Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, ON, Canada.
Centre for Genetic Medicine, The Hospital for Sick Children, Toronto, ON, Canada.
Department of Pediatrics, Ghent University, Ghent, Belgium.
Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
Department of Diagnostic Imaging, The Hospital for Sick Children, Toronto, ON, Canada.
The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada.
Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada.
Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.
Center for Human Genomics and Precision Medicine, University of Wisconsin School of Medicine and Public Health, Madison, WI, United States.

RAC3 is an underexamined member of the Rho GTPase gene family that is expressed in the developing brain and linked to key cellular functions. De novo missense variants in the homolog RAC1 were recently associated with developmental disorders. In the RAC subfamily, transforming missense changes at certain shared residues have been observed in human cancers and previously characterized in experimental studies. The purpose of this study was to determine whether constitutional dysregulation of RAC3 is associated with human disease.

中文翻译：

RAC3 中的从头错义变异导致一种新的神经发育综合征。

RAC3 是 Rho GTPase 基因家族中未被充分研究的成员，它在发育中的大脑中表达并与关键的细胞功能相关。同源 RAC1 中的从头错义变体最近与发育障碍有关。在 RAC 亚家族中，已在人类癌症中观察到某些共享残基的转化错义变化，并且之前在实验研究中对其进行了表征。本研究的目的是确定 RAC3 的体质失调是否与人类疾病有关。

更新日期：2018-10-08

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