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Homozygous mutations in the conserved ATP hinge region of the Wilson disease gene: Association with liver disease

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dc.contributor.author Barada K.
dc.contributor.author El-Atrache M.
dc.contributor.author El-Hajj I.I.
dc.contributor.author Rida K.
dc.contributor.author El-Hajjar J.
dc.contributor.author Mahfoud Z.
dc.contributor.author Usta J.
dc.contributor.editor
dc.date Jul-2010
dc.date.accessioned 2017-10-05T15:37:49Z
dc.date.available 2017-10-05T15:37:49Z
dc.date.issued 2010
dc.identifier 10.1097/MCG.0b013e3181ce5138
dc.identifier.isbn
dc.identifier.issn 01920790
dc.identifier.uri http://hdl.handle.net/10938/15955
dc.description.abstract Objective: To determine whether any correlation exists between the phenotype and genotype of 2 Lebanese families with members affected with Wilson disease (WD). Background: WD is an autosomal-recessive disorder of copper transport with significant phenotypic diversity. Most patients are compound heterozygous making it difficult to establish a clear link between phenotype and genotype. Study: We investigated 14 members from 2 Lebanese families (H and Z) with 5 members affected with WD. Mutation analysis of the ATP7B gene, and clinical assessments were carried out for both families. We also performed a literature search retrieving reported phenotypes of all patients homozygous to mutations in any of the 21 exons of the ATP7B. Results: Patients of the H and Z-families were found homozygous for the respective Asn1270Ser and Pro1273Leu mutations in the adenosine triphosphate (ATP) hinge region of exon 18. Of the healthy members, 6 were heterozygous and 3 had normal sequences. Clinically, 4 patients had liver cirrhosis and 1 had asymptomatic transaminitis. One of the patients also had neurologic symptoms. Screening the literature for patients homozygous for mutations in the ATP hinge region identified 25 patients including ours. The overall prevalence of the hepatic phenotype among patients homozygous for mutation in exon 18 was 80percent and was significantly higher than those in exons 7, 14, and 21. Conclusions: We hereby report the association of liver disease with homozygous mutations in the conserved ATP hinge region of exon 18 of the ATP7B gene. Copyright © 2010 by Lippincott Williams and Wilkins.
dc.format.extent
dc.format.extent Pages: (432-439)
dc.language English
dc.publisher PHILADELPHIA
dc.relation.ispartof Publication Name: Journal of Clinical Gastroenterology; Publication Year: 2010; Volume: 44; no. 6; Pages: (432-439);
dc.relation.ispartofseries
dc.relation.uri
dc.source Scopus
dc.subject.other
dc.title Homozygous mutations in the conserved ATP hinge region of the Wilson disease gene: Association with liver disease
dc.type Article
dc.contributor.affiliation Barada, K., Division of Gastroenterology, Department of Internal Medicine, American University of Beirut Medical Center, United States
dc.contributor.affiliation El-Atrache, M., Faculty of Medicine, American University of Beirut, France
dc.contributor.affiliation El-Hajj, I.I., Faculty of Medicine, American University of Beirut, France
dc.contributor.affiliation Rida, K., Department of Biochemistry, Faculty of Medicine, American University of Beirut, Beirut, Lebanon
dc.contributor.affiliation El-Hajjar, J., Department of Biochemistry, Faculty of Medicine, American University of Beirut, Beirut, Lebanon
dc.contributor.affiliation Mahfoud, Z., Department of Epidemiology and Population Health, Faculty of Health Sciences, American University of Beirut, Beirut, Lebanon
dc.contributor.affiliation Usta, J., Department of Biochemistry, Faculty of Medicine, American University of Beirut, Beirut, Lebanon
dc.contributor.authorAddress Usta, J.; Department of Biochemistry, Faculty of Medicine, American University of Beirut, Beirut, Lebanon; email: justa@aub.edu.lb
dc.contributor.authorCorporate University: American University of Beirut Medical Center; Faculty: Faculty of Medicine; Department: Internal Medicine; Division: Gastroenterology and Hepatology;
dc.contributor.authorDepartment Internal Medicine
dc.contributor.authorDivision Gastroenterology and Hepatology
dc.contributor.authorEmail justa@aub.edu.lb
dc.contributor.authorFaculty Faculty of Medicine
dc.contributor.authorInitials Barada, K
dc.contributor.authorInitials El-Atrache, M
dc.contributor.authorInitials El-Hajj, II
dc.contributor.authorInitials Rida, K
dc.contributor.authorInitials El-Hajjar, J
dc.contributor.authorInitials Mahfoud, Z
dc.contributor.authorInitials Usta, J
dc.contributor.authorOrcidID
dc.contributor.authorReprintAddress Usta, J (reprint author), Amer Univ Beirut, Fac Med, Dept Biochem, Beirut, Lebanon.
dc.contributor.authorResearcherID
dc.contributor.authorUniversity American University of Beirut Medical Center
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dc.description.citedCount 9
dc.description.citedTotWOSCount 11
dc.description.citedWOSCount 10
dc.format.extentCount 8
dc.identifier.articleNo
dc.identifier.coden JCGAD
dc.identifier.pubmedID 20485189
dc.identifier.scopusID 77953809282
dc.identifier.url
dc.publisher.address 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA
dc.relation.ispartofConference
dc.relation.ispartofConferenceCode
dc.relation.ispartofConferenceDate
dc.relation.ispartofConferenceHosting
dc.relation.ispartofConferenceLoc
dc.relation.ispartofConferenceSponsor
dc.relation.ispartofConferenceTitle
dc.relation.ispartofFundingAgency
dc.relation.ispartOfISOAbbr J. Clin. Gastroenterol.
dc.relation.ispartOfIssue 6
dc.relation.ispartOfPart
dc.relation.ispartofPubTitle Journal of Clinical Gastroenterology
dc.relation.ispartofPubTitleAbbr J. Clin. Gastroenterol.
dc.relation.ispartOfSpecialIssue
dc.relation.ispartOfSuppl
dc.relation.ispartOfVolume 44
dc.source.ID WOS:000278817000010
dc.type.publication Journal
dc.subject.otherAuthKeyword ATP hinge
dc.subject.otherAuthKeyword ATP7B
dc.subject.otherAuthKeyword copper toxicity
dc.subject.otherAuthKeyword liver disease
dc.subject.otherAuthKeyword Wilson disease
dc.subject.otherChemCAS Adenosine Triphosphatases, 3.6.1.-
dc.subject.otherChemCAS Adenosine Triphosphate, 56-65-5
dc.subject.otherChemCAS Cation Transport Proteins
dc.subject.otherChemCAS Wilson disease protein, 3.6.3.4
dc.subject.otherIndex adolescent
dc.subject.otherIndex adult
dc.subject.otherIndex article
dc.subject.otherIndex ATP7B gene
dc.subject.otherIndex autosomal recessive disorder
dc.subject.otherIndex child
dc.subject.otherIndex clinical article
dc.subject.otherIndex disease association
dc.subject.otherIndex gene
dc.subject.otherIndex gene mutation
dc.subject.otherIndex genotype phenotype correlation
dc.subject.otherIndex human
dc.subject.otherIndex hypertransaminasemia
dc.subject.otherIndex Lebanon
dc.subject.otherIndex liver cirrhosis
dc.subject.otherIndex liver disease
dc.subject.otherIndex neurologic disease
dc.subject.otherIndex priority journal
dc.subject.otherIndex Wilson disease
dc.subject.otherIndex Adenosine Triphosphatases
dc.subject.otherIndex Adenosine Triphosphate
dc.subject.otherIndex Adolescent
dc.subject.otherIndex Cation Transport Proteins
dc.subject.otherIndex Child
dc.subject.otherIndex Exons
dc.subject.otherIndex Family
dc.subject.otherIndex Female
dc.subject.otherIndex Genotype
dc.subject.otherIndex Hepatolenticular Degeneration
dc.subject.otherIndex Homozygote
dc.subject.otherIndex Humans
dc.subject.otherIndex Lebanon
dc.subject.otherIndex Liver Diseases
dc.subject.otherIndex Male
dc.subject.otherIndex Mutation
dc.subject.otherIndex Pedigree
dc.subject.otherIndex Phenotype
dc.subject.otherIndex Sequence Analysis, DNA
dc.subject.otherKeywordPlus GENOTYPE-PHENOTYPE CORRELATION
dc.subject.otherKeywordPlus COPPER-TRANSPORTING ATPASE
dc.subject.otherKeywordPlus MOLECULAR CHARACTERIZATION
dc.subject.otherKeywordPlus JAPANESE PATIENTS
dc.subject.otherKeywordPlus HIGH PREVALENCE
dc.subject.otherKeywordPlus COMMON MUTATIONS
dc.subject.otherKeywordPlus H1069Q MUTATION
dc.subject.otherKeywordPlus DIAGNOSIS
dc.subject.otherKeywordPlus IDENTIFICATION
dc.subject.otherKeywordPlus POPULATION
dc.subject.otherWOS Gastroenterology and Hepatology


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