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Novel Progranulin M...
Novel Progranulin Mutation Detected in 2 Patients With FTLD
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- Skoglund, Lena (author)
- Uppsala universitet,Geriatrik,Molekylär geriatrik,Molecular Geriatrics, Department of Public Health and Caring Sciences, Uppsala University, Uppsala, Sweden
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Matsui, Toshifumi (author)
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Freeman, Stefanie H. (author)
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- Wallin, Anders, 1950 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
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- Blom, Elin S. (author)
- Uppsala universitet,Geriatrik,Molekylär geriatrik
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Frosch, Matthew P. (author)
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Growdon, John H. (author)
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Hyman, Bradley T. (author)
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- Lannfelt, Lars (author)
- Uppsala universitet,Geriatrik,Molekylär geriatrik
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- Ingelsson, Martin (author)
- Uppsala universitet,Geriatrik,Molekylär geriatrik
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- Glaser, Anna (author)
- Uppsala universitet,Geriatrik,Molekylär geriatrik
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(creator_code:org_t)
- Lippincott Williams & Wilkins, 2011
- 2011
- English.
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In: Alzheimer Disease and Associated Disorders. - : Lippincott Williams & Wilkins. - 0893-0341 .- 1546-4156. ; 25:2, s. 173-178
- Related links:
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https://urn.kb.se/re...
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https://doi.org/10.1...
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https://gup.ub.gu.se...
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https://urn.kb.se/re...
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Abstract
Subject headings
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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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Psykiatri (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Psychiatry (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- frontotemporal lobar degeneration
- frontotemporal dementia
- progranulin
- ubiquitin
- TDP-43
- MEDICINE
- MEDICIN
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Skoglund, Lena
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Matsui, Toshifum ...
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Freeman, Stefani ...
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Wallin, Anders, ...
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Blom, Elin S.
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Frosch, Matthew ...
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show more...
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Growdon, John H.
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Hyman, Bradley T ...
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Lannfelt, Lars
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Ingelsson, Marti ...
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Glaser, Anna
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Psychiatry
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Alzheimer Diseas ...
- By the university
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Uppsala University
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University of Gothenburg
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Högskolan Dalarna