| Novel Progranulin Mutation Detected in 2 Patients With FTLD. | |
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MedLine Citation:
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PMID: 20975516 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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Frontotemporal lobar degeneration (FTLD) with ubiquitin-positive, tau-negative inclusions, and linkage to chromosome 17 was recently found to be caused by mutations in the progranulin (PGRN) gene. In this study, we screened a group of 51 FTLD patients for PGRN mutations and identified a novel exon 6 splice donor site deletion (IVS6+5_8delGTGA) in 2 unrelated patients. This mutation displayed an altered splicing pattern generating 2 aberrant transcripts and causing frameshifts of the coding sequence, premature termination codons, and a near absence of PGRN mRNA from the mutated alleles most likely through nonsense-mediated decay. The subsequent PGRN haploinsufficiency is consistent with previously described PGRN mutations. We present a molecular characterization of the IVS6+5_8delGTGA mutation and also describe clinical and neuropathologic features from the 2 patients carrying this PGRN mutation. From the screening of these 51 FTLD patients, we could also identify the earlier reported mutation Gln130fs, and several coding sequence variants that are most likely nonpathogenic. |
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Authors:
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Lena Skoglund; Toshifumi Matsui; Stefanie H Freeman; Anders Wallin; Elin S Blom; Matthew P Frosch; John H Growdon; Bradley T Hyman; Lars Lannfelt; Martin Ingelsson; Anna Glaser |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Alzheimer disease and associated disorders Volume: 25 ISSN: 1546-4156 ISO Abbreviation: Alzheimer Dis Assoc Disord Publication Date: 2011 Apr-Jun |
Date Detail:
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Created Date: 2011-05-23 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8704771 Medline TA: Alzheimer Dis Assoc Disord Country: United States |
Other Details:
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Languages: eng Pagination: 173-8 Citation Subset: IM |
Affiliation:
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*Molecular Geriatrics, Department of Public Health and Caring Sciences, Uppsala University, Uppsala ‡Clinical Neurochemistry Laboratory, Department of Neuroscience and Physiology, University of Göteborg, Sahlgrenska University Hospital, Mölndal, Sweden †Harvard Medical School, Massachusetts General Hospital, Charlestown, MA. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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