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Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN)

Koop, Olga, Schirmacher, Anja, Nelis, Eva, Timmerman, Vincent, De Jonghe, Peter, Ringelstein, Bernd, Rasic, Vedrana M., Evrard, Philippe, Gärtner, Jutter, Claeys, Kristl G., Appenzeller, Silke, Rautenstrauss, Bernd, Huhne, Kathrin, Ramos-Arroyo, Maria A., Wörle, Helmut, Moilanen, Jukka S., Hammans, Simon and Kuhlenbäumer, Gregor (2007) Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN) Neuromuscular Disorders, 17, (8), pp. 624-630. (doi:10.1016/j.nmd.2007.03.012).

Record type: Article


Giant axonal neuropathy (GAN, MIM: 256850) is a devastating autosomal recessive disorder characterized by an early onset severe peripheral neuropathy, varying central nervous system involvement and strikingly frizzly hair. Giant axonal neuropathy is usually caused by mutations in the gigaxonin gene (GAN) but genetic heterogeneity has been demonstrated for a milder variant of this disease. Here, we report ten patients referred to us for molecular genetic diagnosis. All patients had typical clinical signs suggestive of giant axonal neuropathy. In seven affected individuals, we found disease causing mutations in the gigaxonin gene affecting both alleles: two splice-site and four missense mutations, not reported previously. Gigaxonin binds N-terminally to ubiquitin activating enzyme E1 and C-terminally to various microtubule associated proteins causing their ubiquitin mediated degradation. It was shown for a number of gigaxonin mutations that they impede this process leading to accumulation of microtubule associated proteins and there by impairing cellular functions

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Published date: August 2007
Keywords: humans, adolescent, exons, neurology, germany, magnetic resonance imaging, research support, mutation, child, research, diagnosis, microtubule-associated proteins, male, report, genotype, female, genetics, genetic heterogeneity, alleles, patients, peripheral nervous system diseases, phenotype, analysis, pathology, human, metabolism, promoter regions (genetics), dna mutational analysis, disease, proteins, protein, ubiquitin, cytoskeletal proteins, adult


Local EPrints ID: 59937
ISSN: 0960-8966
PURE UUID: 80af44bf-9c04-4ab8-951c-eb16fc3cb5fc

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Date deposited: 05 Sep 2008
Last modified: 17 Jul 2017 14:24

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Author: Olga Koop
Author: Anja Schirmacher
Author: Eva Nelis
Author: Vincent Timmerman
Author: Peter De Jonghe
Author: Bernd Ringelstein
Author: Vedrana M. Rasic
Author: Philippe Evrard
Author: Jutter Gärtner
Author: Kristl G. Claeys
Author: Silke Appenzeller
Author: Bernd Rautenstrauss
Author: Kathrin Huhne
Author: Maria A. Ramos-Arroyo
Author: Helmut Wörle
Author: Jukka S. Moilanen
Author: Simon Hammans
Author: Gregor Kuhlenbäumer

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