| A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome. | |
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MedLine Citation:
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PMID: 20799324 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Aicardi-Goutières syndrome is a rare, genetically determined encephalopathy often resembling congenital infection. Mutations in the TREX1 gene are found in approximately 25% of patients. Aicardi-Goutières syndrome is usually inherited as an autosomal recessive trait, although a single case of a heterozygous TREX1 mutation associated with the syndrome has been reported. We present a second case of a de novo heterozygous TREX1 mutation causing an autosomal dominant phenotype of Aicardi-Goutières syndrome with additional features indicative of mitochondrial dysfunction. This report serves to enhance awareness of de novo heterozygous mutations underlying Aicardi-Goutières syndrome-with a concomitant low risk of recurrence. |
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Authors:
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Charlotte A Haaxma; Yanick J Crow; Maurice A M van Steensel; Martin M Y Lammens; Gillian I Rice; Marcel M Verbeek; Michèl A A P Willemsen |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 152A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2010 Oct |
Date Detail:
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Created Date: 2010-09-27 Completed Date: 2010-11-16 Revised Date: 2011-07-08 |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 2612-7 Citation Subset: IM |
Copyright Information:
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Copyright © 2010 Wiley-Liss, Inc. |
Affiliation:
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Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Amino Acid Substitution Asparagine / genetics Aspartic Acid / genetics Brain Diseases / genetics*, pathology DNA / genetics, isolation & purification Exodeoxyribonucleases / genetics* Female Heterozygote Detection Humans Muscle, Skeletal / pathology Mutation Phosphoproteins / genetics* Proteins / genetics* |
| Chemical | |
Reg. No./Substance:
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0/Phosphoproteins; 0/Proteins; 56-84-8/Aspartic Acid; 7006-34-0/Asparagine; 9007-49-2/DNA; EC 3.1.-/Exodeoxyribonucleases; EC 3.1.16.-/three prime repair exonuclease 1 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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