Erratum to: Concordance rates of Wilson's disease phenotype among siblings (Journal of Inherited Metabolic Disease (2014) DOI: 10.1007/s10545-013-9625-z);Concordance rates of Wilson's disease phenotype among siblings

Journal of Inherited Metabolic Disease

Volumn 37, Issue 1, 2014, Pages 131-135

  Chabik, Grzegorz ^a   Litwin, Tomasz ^a   Członkowska, Anna ^a  

^a INSTITUTE OF PSYCHIATRY AND NEUROLOGY   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; ADENOSINE TRIPHOSPHATASE 7B; CERULOPLASMIN; UNCLASSIFIED DRUG;

ADULT; ALLELE; ARTICLE; CLINICAL FEATURE; COPPER BLOOD LEVEL; COPPER METABOLISM; HETEROZYGOTE; HUMAN; LABORATORY TEST; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NEUROLOGIC DISEASE; PHENOTYPE; SIBLING; WILSON DISEASE; YOUNG ADULT;

ADENOSINE TRIPHOSPHATASES; ADOLESCENT; ADULT; AGE OF ONSET; CATION TRANSPORT PROTEINS; CERULOPLASMIN; COPPER; DNA MUTATIONAL ANALYSIS; GENE FREQUENCY; HEPATOLENTICULAR DEGENERATION; HETEROZYGOTE; HUMANS; MUTATION; NERVOUS SYSTEM DISEASES; PHENOTYPE; SIBLINGS; YOUNG ADULT;

EID: 84891826649     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-014-9699-2     Document Type: Erratum

References (35)

1. Behari M, Pardasani V (2010) Genetics of Wilsons disease. Parkinsonism Relat Disord 16:639-644
2. Burke W (2003) Genomics as a probe for disease biology. N Engl J Med 349:969-974
3. Coffey AJ, Durkie M, Hague S et al (2013) A genetic study of Wilson's disease in the United Kingdom. Brain 136:1476-1487
4. Cox DW, Moore SDP (2002) Copper transporting P-type ATPases and human disease. J Bioenerg Biomembr 34:333-338
5. Członkowska A, Gromadzka G, Chabik G (2009) Monozygotic female twins discordant for phenotype of Wilson's disease. Mov Disord 24:1066-1088
6. Das SK, Ray K (2006) Wilson's disease: an update. Nat Clin Pract Neurol 2(9):482-493
7. Deguti MM, Genschel J, Cancado ELR et al (2004) Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients. Hum Mutat 23:398
8. Ferenci P, Caca K, Loudianos G et al (2003) Diagnosis and phenotypic classification of Wilson disease. Liver Int 23:139-142
9. Gromadzka G, Członkowska A (2011) Influence of IL-1RN intron 2 variable number of tandem repeats (VNTR) polymorphism on the age at onset of neuropsychiatric symptoms in Wilson's disease. Int J Neurosci 121:8-15
10. Gromadzka G, Schmidt HH, Genschel J et al (2005) Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease. Clin Genet 68:524-532
11. Gromadzka G, Schmidt HH, Genschel J et al (2006) p.H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease. Mov Disord 21:245-248
12. Gromadzka G, Rudnicka M, Chabik G, Przybyłkowski A, Członkowska A (2011) Genetic variability in the methylenetetrahydrofolate reductase gene (MTHFR) affects clinical expression of Wilson's diseases. J Hepatol 55:913-919
13. Gupta A, Chattopadhyay I, Dey S et al (2007) Molecular pathogenesis of Wilson disease among Indians: a perspective on mutation spectrum in ATP7B gene, prevalent defects, clinical heterogeneity and implication towards diagnosis. Cell Mol Neurobiol 27(8):1023-1033
14. Gutteridge JMC (1978) Ceruloplasmin: a plasma protein, enzyme and anti-oxidant. Ann Clin Biochem 15:293-296
15. Ha-Hao D, Hefter H, Stremmel W et al (1998) His1069Gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype. Eur J Hum Genet 6:616-623
16. Houwen RH, Juyn J, Hoogenraad TU, Ploos van Amstel JK, Berger R (1995) H714Q mutation in Wilson disease is associated with late, neurological presentation. J Med Genet 32:480-482
17. Linder MC, Wooten L, Cerveza P, Cotton S, Shulze R, Lomeli N (1998) Copper transport. Am J Clin Nutr 67:965-971
18. Litwin T, Członkowska A (2013) Wilson disease - factors affecting clinical presentation. Neurol Neurochir Pol 47:161-169
19. Litwin T, Gromadzka G, Członkowska A (2012) Apolipoprotein E gene (APOE) genotype in Wilson's disease: impact on clinical presentation. Parkinsonism Relat Disord 18:367-369
20. McGue M (1992) When assessing twin concordance, use the probandwise not the pairwise rate. Schizophr Bull 18:171-176
21. Merle U, Stremmel W, Gesner R (2006) Influence of homozygosity for methionine at codon 129 of the human prion gene on the onset of neurological and hepatic symptoms in Wilson's disease. Arch Neurol 63:982-985
22. Millhauser GL (2004) Copper binding in the prion protein. Acc Chem Res 37:79-85
23. Multhaup G, Schlicksupp A, Hesse L et al (1996) The amyloid precursor protein of Alzheimer's disease in the reduction of copper(II) to copper(I). Science 271:1406-1409
24. Olsson C, Waldenström E, Westermark K, Landegren U, Syvänen AC (2000) Determination of the frequencies of ten allelic variants of the Wilson disease gene (ATP7B), in pooled DNA samples. Eur J Hum Genet 8:933-938
25. Prodan CI, Holland NR, Wisdom PJ, Burstein SA, Bottomley SS (2002) CNS demyelination associated with copper deficiency and hyperzincemia. Neurology 59:1453-1456
26. Rankin J, Auer-Grumbach M, Bagg W et al. (2008) Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C. Am J Med Genet 146:1530-1542.
27. Ravin HA (1961) An improved colorimetric assay of ceruloplasmin. J Lab Clin Med 61:161-168
28. Santhosh S, Shaji RV, Eapen CE et al (2008) Genotype phenotype correlation in Wilson's disease within families - a report on four south Indian families. World J Gastroenterol 14:4672-4676
29. Scheinberg IH, Sternlieb I (1984) Wilson's disease. In: Lloyd H, Smith J (eds) Major problems in internal medicine. Saunders, Philadelphia, p 23
30. Schiefermeier M, Kollegger H, Madl C et al (2000) The impact of, apolipoprotein E genotypes on age at onset of, symptoms and phenotypic expression in Wilson's disease. Brain 123:585-590
31. Scriver CR, Waters PJ (1999) Monogenic traits are not simple: lessons from phenylketonuria. Trends Genet 15:267-272
32. Smith C (1974) Concordance in twins: methods and interpretation. Am J Hum Genet 26:454-466
33. Stapelbroek JM, Bollen CW, van Amstel JK et al (2004) The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease: results of a meta-analysis. J Hepatol 41:758-763
34. Takeshita Y, Shimizu N, Yamaguchi Y et al (2002) Two families with Wilson disease in which siblings showed different phenotypes. J Hum Genet 47:543-547
35. Vrabelova S, Letocha O, Borsky M, Kozak L (2005) Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. Mol Genet Metab 86:277-285