Genetic defects in Indian Wilson disease patients and genotype-phenotype correlation

Parkinsonism and Related Disorders

Volumn 20, Issue 1, 2014, Pages 75-81

  Mukherjee, Shashwata ^a   Dutta, Shruti ^a   Majumdar, Sulagna ^a   Biswas, Tamoghna ^a   Jaiswal, Preeti ^a   Sengupta, Mainak ^a   Bhattacharya, Abhisek ^a   Gangopadhyay, Prasanta K ^b   Bavdekar, Ashish ^c   Das, Shyamal K ^d,e   Ray, Kunal ^a,f  

^a INDIAN INSTITUTE OF CHEMICAL BIOLOGY   (India)

^b CALCUTTA NATIONAL MEDICAL COLLEGE   (India)

^c KEM HOSPITAL   (India)

^d BANGUR INSTITUTE OF NEUROSCIENCES   (India)

^e BURDWAN MEDICAL COLLEGE   (India)

^f ACADEMY OF SCIENTIFIC AND INNOVATIVE RESEARCH ACSIR   (India)

Author keywords

ATP7B; Genotype phenotype correlation; WD; Wilson disease

Indexed keywords

WILSON DISEASE PROTEIN;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ALLELE; ARTICLE; ATP7B GENE; COHORT ANALYSIS; CONTROLLED STUDY; DNA POLYMORPHISM; FRAMESHIFT MUTATION; FUNCTIONAL ASSESSMENT; GENE CONTROL; GENE EXPRESSION; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INDIAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; ONSET AGE; PRIORITY JOURNAL; PROMOTER REGION; RNA SPLICING; SCORING SYSTEM; WILSON DISEASE;

ATP7B; GENOTYPE-PHENOTYPE CORRELATION; WD; WILSON DISEASE;

ADENOSINE TRIPHOSPHATASES; ADOLESCENT; CATION TRANSPORT PROTEINS; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; HEPATOLENTICULAR DEGENERATION; HUMANS; INDIA; MALE; MUTATION; POLYMERASE CHAIN REACTION; YOUNG ADULT;

EID: 84892802518     PISSN: 13538020     EISSN: 18735126     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2013.09.021     Document Type: Article

References (30)

1. Thomas G.R., Forbes J.R., Roberts E.A., Walshe J.M., Cox D.W. The Wilson disease gene: spectrum of mutations and their consequences. Nat Genet 1995, 9(2):210-217.
2. Lutsenko S., Barnes N.L., Bartee M.Y., Dmitriev O.Y. Function and regulation of human copper-transporting ATPases. Physiol Rev 2007, 87(3):1011-1046.
3. Lutsenko S., Gupta A., Burkhead J.L., Zuzel V. Cellular multitasking: the dual role of human Cu-ATPases in cofactor delivery and intracellular copper balance. Arch Biochem Biophys 2008, 476(1):22-32.
4. Barada K., Nemer G., ElHajj, Touma J., Cortas N., Boustany R.M., et al. Early and severe liver disease associated with homozygosity for an exon 7 mutation, G691R, in Wilson's disease. Clin Genet 2007, 72(3):264-267.
5. Kegley K.M., Sellers M.A., Ferber M.J., Johnson M.W., Joelson D.W., Shrestha R. Fulminant Wilson's disease requiring liver transplantation in one monozygotic twin despite identical genetic mutation. Am J Transplant 2010, 10(5):1325-1329.
6. Stuehler B., Reichert J., Stremmel W., Schaefer M. Analysis of the human homologue of the canine copper toxicosis gene MURR1 in Wilson disease patients. JMol Med (Berl) 2004, 82(9):629-634.
7. Gupta A., Chattopadhyay I., Mukherjee S., Sengupta M., Das S.K., Ray K. Anovel COMMD1 mutation Thr174Met associated with elevated urinary copper and signs of enhanced apoptotic cell death in a Wilson disease patient. Behav Brain Funct 2010, 6:33.
8. Litwin T., Gromadzka G., Czlonkowska A. Apolipoprotein E gene (APOE) genotype in Wilson's disease: impact on clinical presentation. Parkinsonism Relat Disord 2012, 18(4):367-369.
9. Oh W.J., Kim E.K., Park K.D., Hahn S.H., Yoo O.J. Cloning and characterization of the promoter region of the Wilson disease gene. Biochem Biophys Res Commun 1999, 259(1):206-211.
10. Cullen L.M., Prat L., Cox D.W. Genetic variation in the promoter and 5' UTR of the copper transporter, ATP7B, in patients with Wilson disease. Clin Genet 2003, 64(5):429-432.
11. Wan L., Tsai C.H., Hsu C.M., Huang C.C., Yang C.C., Liao C.C., et al. Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B. Hepatology 2010, 52(5):1662-1670.
12. Ferenci P. Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing. Hum Genet 2006, 120(2):151-159.
13. Bruha R., Marecek Z., Pospisilova L., Nevsimalova S., Vitek L., Martasek P., et al. Long-term follow-up of Wilson disease: natural history, treatment, mutations analysis and phenotypic correlation. Liver Int 2010, 31(1):83-91.
14. Gupta A., Chattopadhyay I., Dey S., Nasipuri P., Das S.K., Gangopadhyay P.K., et al. 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 2007, 27(8):1023-1033.
15. Sternlieb I. Perspectives on Wilson's disease. Hepatology 1990, 12(5):1234-1239.
16. Aggarwal A., Aggarwal N., Nagral A., Jankharia G., Bhatt M. Anovel Global assessment scale for Wilson's disease (GAS for WD). Mov Disord 2009, 24(4):509-518.
17. Gupta A., Aikath D., Neogi R., Datta S., Basu K., Maity B., et al. Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients. Hum Genet 2005, 118(1):49-57.
18. Barada K., El-Atrache M., El H., Rida K., El-Hajjar J., Mahfoud Z., et al. Homozygous mutations in the conserved ATP hinge region of the Wilson disease gene: association with liver disease. JClin Gastroenterol 2010, 44(6):432-439.
19. 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(1-2):277-285.
20. Lee B.H., Kim J.H., Lee S.Y., Jin H.Y., Kim K.J., Lee J.J., et al. Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort. Liver Int 2011, 31(6):831-839.
21. Loudianos G., Dessi V., Lovicu M., Angius A., Figus A., Lilliu F., et al. Molecular characterization of wilson disease in the Sardinian population-evidence of a founder effect. Hum Mutat 1999, 14(4):294-303.
22. Yang C.S., Liang X.L., Li J.Y., Yan Z.W., Huang F. Effect of the mutation of promoter region in Wilson disease ATP7B gene on the expression of reporter gene. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2005, 22(5):566-568.
23. Hoogendoorn B., Coleman S.L., Guy C.A., Smith K., Bowen T., Buckland P.R., et al. Functional analysis of human promoter polymorphisms. Hum Mol Genet 2003, 12(18):2249-2254.
24. Nicastro E., Loudianos G., Zancan L., D'Antiga L., Maggiore G., Marcellini M., et al. Genotype-phenotype correlation in Italian children with Wilson's disease. JHepatol 2009, 50(3):555-561.
25. Moller L.B., Horn N., Jeppesen T.D., Vissing J., Wibrand F., Jennum P., et al. Clinical presentation and mutations in Danish patients with Wilson disease. Eur J Hum Genet 2011, 19(9):935-941.
26. Huppke P., Brendel C., Kalscheuer V., Korenke G.C., Marquardt I., Freisinger P., et al. Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. Am J Hum Genet 2012, 90(1):61-68.
27. Connemann B.J., Gahr M., Schmid M., Runz H., Freudenmann R.W. Low ceruloplasmin in a patient with Niemann-Pick type C disease. JClin Neurosci 2012, 19(4):620-621.
28. Quadri M., Federico A., Zhao T., Breedveld G.J., Battisti C., Delnooz C., et al. Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease. Am J Hum Genet 2012, 90(3):467-477.
29. Aggarwal A., Chandhok G., Todorov T., Parekh S., Tilve S., Zibert A., et al. Wilson disease mutation pattern with genotype-phenotype correlations from western India: Confirmation of p.C271* as a Common Indian Mutation and Identification of 14 Novel Mutations. Ann Hum Genet 2013, 2013(2):12024.
30. Leinweber B., Moller J.C., Scherag A., Reuner U., Gunther P., Lang C.J., et al. Evaluation of the Unified Wilson's Disease Rating Scale (UWDRS) in German patients with treated Wilson's disease. Mov Disord 2008, 23(1):54-62.