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SHR Neuro Krebs Kardio Lipid Stoffw Microb

Auer-Grumbach, M; Weger, M; Fink-Puches, R; Papić, L; Fröhlich, E; Auer-Grumbach, P; El Shabrawi-Caelen, L; Schabhüttl, M; Windpassinger, C; Senderek, J; Budka, H; Trajanoski, S; Janecke, AR; Haas, A; Metze, D; Pieber, TR; Guelly, C.
Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.
Brain. 2011; 134(Pt 6):1839-1852 Doi: 10.1093/brain/awr076 [OPEN ACCESS]
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Führende Autor*innen der Med Uni Graz
Auer-Grumbach Michaela
Co-Autor*innen der Med Uni Graz
El-Shabrawi-Caelen Laila
Fink-Puches Regina
Fröhlich Eleonore
Gülly Christian
Haas Anton
Papic Lea
Pieber Thomas
Schabhüttl Maria
Trajanoski Slave
Weger Martin
Windpassinger Christian

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To identify the disease-causing gene responsible for an autosomal dominantly inherited Charcot-Marie-Tooth neuropathy subtype in a family excluded for mutations in the common Charcot-Marie-Tooth genes, we used array-based sequence capture to simultaneously analyse the disease-linked protein coding exome at chromosome 14q32. A missense mutation in fibulin-5, encoding a widely expressed constituent of the extracellular matrix that has an essential role in elastic fibre assembly and has been shown to cause cutis laxa, was detected as the only novel non-synonymous sequence variant within the disease interval. Screening of 112 index probands with unclassified Charcot-Marie-Tooth neuropathies detected two further fibulin-5 missense mutations in two families with Charcot-Marie-Tooth disease and hyperextensible skin. Since fibulin-5 mutations have been described in patients with age-related macular degeneration, an additional 300 probands with exudative age-related macular degeneration were included in this study. Two further fibulin-5 missense mutations were identified in six patients. A mild to severe peripheral neuropathy was detected in the majority of patients with age-related macular degeneration carrying mutations in fibulin-5. This study identifies fibulin-5 as a gene involved in Charcot-Marie-Tooth neuropathies and reveals heterozygous fibulin-5 mutations in 2% of our patients with age-related macular degeneration. Furthermore, it adumbrates a new syndrome by linking concurrent pathologic alterations affecting peripheral nerves, eyes and skin to mutations in the fibulin-5 gene.
Find related publications in this database (using NLM MeSH Indexing)
Adult -
Aged -
Aged, 80 and over -
Animals -
Charcot-Marie-Tooth Disease - complications
Charcot-Marie-Tooth Disease - genetics
Charcot-Marie-Tooth Disease - pathology
Computational Biology -
DNA Mutational Analysis - methods
Evolution, Molecular -
Extracellular Matrix Proteins - genetics
Family Health -
Female -
Genetic Predisposition to Disease -
Humans -
Linkage Disequilibrium -
Macular Degeneration - complications
Macular Degeneration - genetics
Macular Degeneration - pathology
Male -
Middle Aged -
Muscles - pathology
Mutation, Missense - genetics
Neural Conduction - genetics
Skin - pathology
Skin Diseases, Genetic - complications
Skin Diseases, Genetic - genetics
Skin Diseases, Genetic - pathology
Young Adult -

Find related publications in this database (Keywords)
age-related macular degeneration
cutis laxa
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