Correction: Genotype-phenotype correlations in a mountain population community with high prevalence of Wilson's disease: Genetic and clinical homogeneity (PLoS ONE (2014) 9, 6 (e98520) DOI: 10.1371/journal.pone.0098520);Genotype-phenotype correlations in a mountain population community with high prevalence of wilson's disease: Genetic and cinical homogeneity

PLoS ONE

Volumn 9, Issue 6, 2014, Pages

  Cocoş, Relu ^a,c   Sȩndroiu, Alina ^e   Schipor, Sorina ^d   Bohîļtea, Laurenţiu Camil ^a,f   Şendroiu, Ionuţ ^e   Raicu, Florina ^a,b  

^a CAROL DAVILA UNIVERSITY OF MEDICINE AND PHARMACY   (Romania)

^b ACADEMY OF ROMANIAN SCIENTISTS   (Romania)

^c Genome Life Research Centre   (Romania)

^d C I PARHON NATIONAL INSTITUTE OF ENDOCRINOLOGY   (Romania)

^e Family Medical Centre   (Romania)

^f Sf Pantelimon Clin Emergency Hosp   (Romania)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; GLUTAMINE; HISTIDINE; METHIONINE; PENICILLAMINE; WILSON DISEASE PROTEIN;

ADOLESCENT; ADULT; ARTICLE; ASYMPTOMATIC DISEASE; ATP7B GENE; CHILD; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CLINICAL FEATURE; COMMUNITY SAMPLE; CONTROLLED STUDY; CULTURAL ANTHROPOLOGY; DYSARTHRIA; DYSPHAGIA; DYSTONIA; ENVIRONMENTAL FACTOR; FAMILY SIZE; FAMILY STUDY; FEMALE; GENE SEQUENCE; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HEREDITY; HETEROZYGOTE; HUMAN; MALE; NUCLEOTIDE SEQUENCE; ONSET AGE; POPULATION GENETICS; POPULATION RESEARCH; PRESCHOOL CHILD; PREVALENCE; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; SYMPTOM; WILSON DISEASE; YOUNG ADULT; GENETIC ASSOCIATION; GENETICS; HEPATOLENTICULAR DEGENERATION; PEDIGREE; PHENOTYPE; PROGNOSIS;

ADOLESCENT; AGE OF ONSET; CHILD; FEMALE; GENETIC ASSOCIATION STUDIES; HEPATOLENTICULAR DEGENERATION; HUMANS; MALE; PEDIGREE; PHENOTYPE; PROGNOSIS; YOUNG ADULT;

EID: 84902525778     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0102619     Document Type: Erratum

References (50)

1. Wilson SAK (1912) Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver. Brain 34: 295-507.
2. Ala A, Walker AP, Ashkan K, Dooley JS, Schilsky ML (2007) Wilson's disease. Lancet 369: 397-408. (Pubitemid 46177228)
3. Gitlin JD (2003) Wilson disease. Gastroenterology 125: 1868-1877.
4. Frydman F, Bonne-Tamir B, Farrer LA, Conneally PM, Magazanik A, et al. (1985) Assignment of the gene for Wilson disease to chromosome 13: linkage to esterase D locus. Proc Natl Acad Sci USA 82: 1819-1821.
5. Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW (1993) The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet 5: 327-337. (Pubitemid 23351302)
6. Yamaguchi Y, Heiny ME, Gitlin JD (1993) Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease. Biochem Biophys Res Commun 197: 271-277. (Pubitemid 23358907)
7. Reilly M, Daly L, Hutchinson M (1993) An epidemiological study of Wilson's disease in the Republic of Ireland. J Neurol Neurosurg Psychiatry 56: 298-300. (Pubitemid 23101214)
8. Roberts EA, Schilsky ML (2008) Diagnosis and treatment of Wilson disease: an update. Hepatology 47: 2089-2111. (Pubitemid 351945575)
9. Figus A, Angius A, Loudianos G, Bertini C, Dessi V, et al. (1995) Molecular Pathology and Haplotype Analysis of Wilson Disease in Mediterranean Populations. Am J Hum Genet 57: 1318-1324.
10. Loudianos G, Dessi V, Lovicu M, Angius A, Figus A, et al. (1999) Molecular characterization of Wilson disease in the Sardinian population-evidence of a founder effect. Hum Mutat 14: 294-303. (Pubitemid 29480313)
11. García-Villarreal L, Daniels S, Shaw SH, Cotton D, Galvin M, et al. (2000) High prevalence of the very rare Wilson disease gene mutation Leu708Pro in the Island of Gran Canaria (Canary Islands, Spain): a genetic and clinical study. Hepatology 32: 1329-36.
12. Iacob R, Iacob S, Nastase A, Vagu C, Ene AM, et al. (2012) The His1069Gln mutation in the ATP7B gene in Romanian patients with Wilson's disease referred to a tertiary gastroenterology centre. Gastrointestin Liver Dis 21: 181-185.
13. Lepori MB, Zappu A, Incollu S, Dessí V, Mameli E, et al. (2012) Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: contribution to diagnosis. Mol Cell Probes 26: 147-150.
14. Scheinberg IH, Gitlin D (1952) Deficiency of ceruloplasmin in patients with hepatolenticular degeneration (Wilson's disease). Science 116: 484-485.
15. Scheinberg IH, Sternlieb I (1984) Wilson's disease. Philadelphia: WB Saunders. 23-25.
16. Sternlieb I (1990) Perspectives on Wilson's disease. Hepatology 12: 1234-1239.
17. Ferenci P, Caca K, Loudianos G, Mieli-Vergani G, Tanner S, et al. (2003) Diagnosis and phenotypic classification of Wilson disease. Liver Int 23: 139-142. (Pubitemid 37265785)
18. Stapelbroek JM, Bollen CW, van Amstel JK, van Erpecum KJ, van Hattum J, 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. (Pubitemid 39434305)
19. Nicastro E, Loudianos G, Zancan L, D'Antiga L, Maggiore G, et al. (2009) Genotype-phenotype correlation in Italian children with Wilson's disease. J Hepatol 50: 555-561.
20. Barada K, Nemer G, ElHajj II, Touma J, Cortas N, et al. (2007) Early and severe liver disease associated with homozygosity for an exon 7 mutation, G691R, in Wilson's disease. Clinical Genetics 72: 264-267. (Pubitemid 47300031)
21. Merle U, Weiss KH, Eisenbach C, Tuma S, Ferenci P, et al. (2010) Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease. BMC Gastroenterol 18: 10-18.
22. Fraga MF, Ballestar E, Paz MF, Ropero S, Setien F, et al. (2005) Epigenetic differences arise during the lifetime of monozygotic twins. Proc Natl Acad Sci U S A 102: 10604-10609. (Pubitemid 41061601)
23. Bittles AH, Black ML (2010) Consanguinity, human evolution, and complex diseases. Proc Natl Acad Sci U S A 107 (suppl 1): 1779-1786.
24. Coffey AJ, Durkie M, Hague S, McLay K, Emmerson J, et al. (2013) A genetic study of Wilson's disease in the United Kingdom. Brain 136: 1476-1487.
25. 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. (Pubitemid 41412185)
26. Gupta A, Maulik M, Nasipuri P, Chattopadhyay I, Das SK, et al. (2007) Molecular Diagnosis of Wilson Disease Using Prevalent Mutations and Informative Single-Nucleotide Polymorphism Markers. Clin Chem 53: 1601-1608. (Pubitemid 47340055)
27. Olsson C, Waldenström E, Westermark K, Landegre U, Syvänen AC (2000) Determination of the frequencies of ten allelic variants of theWilson disease gene (ATP7B), in pooled DNA samples. Eur J Hum Genet 8: 933-938. (Pubitemid 32094344)
28. Duc HH, Hefter H, Stremmel W, Castañeda-Guillot C, Hernández HA, 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. (Pubitemid 29020797)
29. Wang LH, Huang YQ, Shang X, Su QX, Xiong F, et al. (2011) Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation. J Hum Genet 56: 660-665.
30. Ye S, Gong L, Shui QX, Zhou LF (2007) Wilson disease: identification of two novel mutations and clinical correlation in Eastern Chinese patients. World J Gastroenterol 13: 5147-5150. (Pubitemid 47527354)
31. Thomas GR, Forbes JR, Roberts EA, Walshe JM, Cox DW (1995) The Wilson disease gene: spectrum of mutations and their consequences. Nat Genet 9: 210-217.
32. Cox DW, Prat L, Walshe JM, Heathcote J, Gaffney D (2005) Twenty-four novel mutations in Wilson disease patients of predominantly European ancestry. Hum Mutat 26: 280.
33. Gupta A, Aikath D, Neogi R, Datta S, Basu K, et al. (2005) Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients. Hum Genet 118: 49-57.
34. Gromadzka G, Schmidt HH, Genschel J, Bochow B, Rodo M, 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. (Pubitemid 41748852)
35. Usta J, Abu DH, Halawi H, Al-Shareef I, El-Rifai O, et al. (2012) Homozygosity for Non-H1069Q Missense Mutations in ATP7B Gene and Early Severe Liver Disease: Report of Two Families and a Meta-analysis. JIMD Rep 4: 129-137.
36. Dedoussis GV, Genschel J, Sialvera TE, Bochow B, Manolaki N, et al. (2005) Wilson disease: high prevalence in a mountainous area of Crete. Ann Hum Genet 69: 268-274. (Pubitemid 40613728)
37. Firneisz G, Szonyi L, Ferenci P, Gorog D, Nemes B, et al. (2001) Wilson disease in two consecutive generations: an exceptional family. Am J Gastroenterol 96: 2269-2271. (Pubitemid 32660938)
38. Dziezyc K, Gromadzka G, Czlonkowska A (2011) Wilson's disease in consecutive generations of one family. Parkinsonism Relat Disord 17: 577-578.
39. Gromadzka G, Schmidt HH, Genschel J, Bochow B, Rodo M, 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.
40. Panagiotakaki E, Tzetis M, Manolaki N, Loudianos G, Papatheodorou A, et al. (2004) Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B). Am J Med Genet A 131: 168-173. (Pubitemid 39578349)
41. Møller LB, Horn N, Jeppesen TD, Vissing J, Wibrand F, et al. (2011) Clinical presentation and mutations in Danish patients with Wilson disease. Eur J Hum Genet 19: 935-941.
42. Santhosh S, Shaji RV, Eapen CE, Jayanthi V, Malathi S, 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.
43. Chabik G, Litwin T, Czonkowska A (2014) Concordance rates of Wilson's disease phenotype among siblings. J Inherit Metab Dis 37: 131-135.
44. Takeshita Y, Shimizu N, Yamaguchi Y, Nakazono H, Saitou M, et al. (2002) Two families with Wilson disease in which siblings showed different phenotypes. J Hum Genet 47: 543-547. (Pubitemid 35238971)
45. Czlonkowska A, Gromadzka G, Chabik G (2009) Monozygotic female twins discordant for phenotype of Wilson's disease. Mov Disord 24: 1066-1069.
46. Gilman PA, Holtzman NA (1982) Acute lymphoblastic leukemia in a patient receiving penicillamine for Wilson's disease. JAMA 248: 467-468. (Pubitemid 12081755)
47. Lee BH, Kim JH, Lee SY, Jin HY, Kim KJ, et al. (2011) Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort. Liver Int 31: 831-839.
48. Brage A, Tomé S, García A, Carracedo A, Salas A (2007) Clinical and molecular characterization of Wilson disease in Spanish patients. Hepatol Res 37: 18-26. (Pubitemid 46403837)
49. Simon I, Schaefer M, Reichert J, Stremmel W (2008) Analysis of the human Atox 1 homologue in Wilson patients. World J Gastroenterol 14: 2383-2387. (Pubitemid 351877610)
50. Stuehler B, Reichert J, Stremmel W, Schaefer M (2004) Analysis of the human homologue of the canine copper toxicosis gene MURR1 in Wilson disease patients. J Mol Med 82: 629-634. (Pubitemid 39312668)