Download PDF
Fortschr Neurol Psychiatr 2006; 74(10): 555-557
DOI: 10.1055/s-2006-944283
Editorial
© Georg Thieme Verlag Stuttgart · New York

Eine Mutation = ein Phänotyp?

One Mutation = one Phenotype?C.  J. G.  Lang1
  • 1Neurologische Klinik mit Poliklinik der Friedrich-Alexander-Universität Erlangen-Nürnberg (Direktor: Prof. Dr. med. Stefan Schwab)
Further Information

Publication History

Publication Date:
26 September 2006 (online)

Also available at
    Permissions and Reprints

apl. Prof. Dr. med. Dipl.-Psych. Christoph J. G. Lang

Literatur

  • 1 Nüsslein-Volhard C. Gradients that organize embryo development.  Sci Am. 1996;  175 54-55, 58 - 61
    PubMedGoogle Scholar
  • 2 Klockgether T. Ataxiekrankheiten.  Nervenarzt. 2005;  76 1275-1285
    CrossrefPubMedGoogle Scholar
  • 3 Parchi P, Castellani R, Capellari S, Ghetti B, Young K, Chen S G, Farlow M, Dickson D W, Sima A A, Trojanowski J Q, Petersen R B, Gambetti P. Molecular basis of phenotypic variability in sporadic Creutzfeldt-Jakob disease.  Ann Neurol. 1996;  39 767-778
    CrossrefPubMedGoogle Scholar
  • 4 Makarova V A. Phenocopy of hepatocerebral dystrophy (Wilson-Konovalov disease).  [Russisch] Zh Nevropatol Psikhiatr Im S S Korsakova. 1981;  81 1606-1612
    PubMedGoogle Scholar
  • 5 Chelly J, Monaco A P. Cloning the Wilson disease gene.  Nat Genet. 1993;  5 317-318
    CrossrefPubMedGoogle Scholar
  • 6 Vrabelova S, Letocha O, Borsky M, Kozak L. Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.  Mol Genet Metab. 2005;  86 277-285
    CrossrefPubMedGoogle Scholar
  • 7 Stapelbroek J M, Bollen C W, Amstel J K van, Erpecum K J van, Hattum J van, Berg L H van den, Klomp L W, Houwen R H. The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease: results of a meta-analysis.  J Hepatol. 2004;  41 758-763
    CrossrefPubMedGoogle Scholar
  • 8 Hermann W, Caca K, Eggers B, Villmann T, Clark D, Berr F, Wagner A. Genotype correlation with fine motor symptoms in patients with Wilson's disease.  Eur Neurol. 2002;  48 97-101
    CrossrefPubMedGoogle Scholar
  • 9 Duc H H, Hefter H, Stremmel W, Castaneda-Guillot C, Hernandez Hernandez A, Cox D W, Auburger G. His1069Gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype.  Eur J Hum Genet. 1998;  6 616-623
    PubMedGoogle Scholar
  • 10 Shah A B, Chernov I, Zhang H T, Ross B M, Das K, Lutsenko S, Parano E, Pavone L, Evgrafov O, Ivanova-Smolenskaya I A, Anneren G, Westermark K, Urrutia F H, Penchaszadeh G K, Sternlieb I, Scheinberg I H, Gilliam T C, Petrukhin K. Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.  Am J Hum Genet. 1997;  61 317-328
    CrossrefPubMedGoogle Scholar
  • 11 Deguti M M, Genschel J, Cancado E L, Barbosa E R, Bochow B, Mucenic M, Porta G, Lochs H, Carrilho F J, Schmidt H H. Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients.  Hum Mutat. 2004;  23 398
    PubMedGoogle Scholar
  • 12 Okada T, Shiono Y, Hayashi H, Satoh H, Sawada T, Suzuki A, Takeda Y, Yano M, Michitaka K, Onji M, Mabuchi H. Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease.  Hum Mutat. 2000;  15 454-462
    CrossrefPubMedGoogle Scholar
  • 13 Gu Y H, Kodama H, Du S L, Gu Q J, Sun H J, Ushijima H. Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease.  Clin Genet. 2003;  64 479-484
    CrossrefPubMedGoogle Scholar
  • 14 Liu X Q, Zhang Y F, Liu T T, Hsiao K J, Zhang J M, Gu X F, Bao K R, Yu L H, Wang M X. Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease.  World J Gastroenterol.. 2004;  10 590-593
    PubMedGoogle Scholar
  • 15 Wu Z Y, Wang N, Lin M T, Fang L, Murong S X, Yu L. Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in chinese patients with Wilson disease.  Arch Neurol. 2001;  58 971-976
    CrossrefPubMedGoogle Scholar
  • 16 Gupta A, Aikath D, Neogi R, Datta S, Basu K, Maity B, Trivedi R, Ray J, Das S K, Gangopadhyay P K, Ray K. Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients.  Hum Genet. 2005;  118 49-57
    CrossrefPubMedGoogle Scholar
  • 17 Leggio L, Addolorato G, Loudianos G, Abenavoli L, Gasbarrini G. Genotype-phenotype correlation of the Wilson disease ATP7B gene.  Am J Med Genet A. 2006;  140 933
    PubMedGoogle Scholar
  • 18 Jaspert A, Claus D, Lang C, Kolominsky P, Neundörfer B. Klinik, neurologische Diagnostik und Therapie des M. Wilson. In: Huffmann G, Braune H-J, Henn K-H (Hrsg.). Extrapyramidalmotorische Erkrankungen. Reinbek: Einhorn 1994: 551-555
    Google Scholar
  • 19 Schlaug G, Hefter H, Engelbrecht V, Kuwert T, Arnold S, Stöcklin G, Seitz R J. Neurological impairment and recovery in Wilson’s disease: evidence from PET and MRI.  J Neurol Sci. 1996;  136 129-139
    CrossrefPubMedGoogle Scholar
  • 20 Riordan S M, Wiliams R. The Wilson's disease gene and phenotypic diversity.  J Hepatol. 2001;  34 165-171
    PubMedGoogle Scholar
  • 21 Hermann W, Günther P, Schneider J P, Villmann T, Kühn H J, Eichelkraut S. Klinische und Genotyp-Phänotyp-Korrelation epidemiologischer, bildgebender und neurologischer Befunde bei Patienten mit Morbus Wilson.  Fortschr Neurol Psychiat. 2006;  74 558-566
    PubMedGoogle Scholar

apl. Prof. Dr. med. Dipl.-Psych. Christoph J. G. Lang

Neurologische Klinik mit Poliklinik der FAU Erlangen-Nürnberg

Schwabachanlage 6

91054 Erlangen

Email: christoph.lang@neuro.imed.uni-erlangen.de