| SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: A United States clinical testing lab experience. | |
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MedLine Citation:
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PMID: 22292843 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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Abstract SOD1, ANG, TARDBP and FUS mutations have been associated with amyotrophic lateral sclerosis (ALS). Our goal was to extend molecular genetic analysis to newly identified ALS genetic loci and to determine the frequency of mutations, distribution of disease genes, and variant spectrum of these genes in a large United States ALS-phenotype cohort. We screened 1220 probands with an ALS phenotype, referred originally for SOD1 molecular genetic analysis. 1128 SOD1-negative probands were screened for ANG, and 277 and 223 SOD1- and ANG-negative samples were screened for TARDBP and FUS, respectively. One hundred additional probands were specifically screened only for FUS exon 15. We identified a total of 36 different SOD1 mutations, including three novel mutations, in 92 probands. ANG screening identified three mutations, including two novel mutations, and TARDBP screening identified two previously reported TARDBP mutations. We also identified four mutations in FUS, including the reported FUS in-frame deletion, c.430_447del, p.Gly144_Tyr149del, in a patient with inclusion body myositis, and two known FUS missense mutations. From this study, we estimate frequencies for SOD1, ANG, TARDBP and FUS mutations, in this United States cohort, to be 7.5%, 0.71%, 0.72% and 1.9%, respectively. In conclusion, we identify novel variants in SOD1, ANG, TARDBP and FUS, and expand the FUS-associated clinicopathologic phenotype. |
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Authors:
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Jeffrey A Brown; Jionghong Min; John F Staropoli; Elisa Collin; Stephen Bi; Xin Feng; Rosemary Barone; Yi Cao; Lei O'malley; Winnie Xin; Thomas E Mullen; Katherine B Sims |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases Volume: 13 ISSN: 1471-180X ISO Abbreviation: Amyotroph Lateral Scler Publication Date: 2012 Feb |
Date Detail:
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Created Date: 2012-02-01 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101283386 Medline TA: Amyotroph Lateral Scler Country: England |
Other Details:
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Languages: eng Pagination: 217-22 Citation Subset: IM |
Affiliation:
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Neurogenetics DNA Diagnostic Laboratory, Massachusetts General Hospital, Center for Human Genetic Research , Boston. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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