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Copy number variations on chromosome 4q26-27 are associated with Cantu syndrome

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dc.contributor.author Kurban M.
dc.contributor.author Kim C.A.
dc.contributor.author Kiuru M.
dc.contributor.author Fantauzzo K.
dc.contributor.author Cabral R.
dc.contributor.author Abbas O.
dc.contributor.author Levy B.
dc.contributor.author Christiano A.M.
dc.contributor.editor
dc.date Feb-2011
dc.date.accessioned 2017-10-05T15:32:46Z
dc.date.available 2017-10-05T15:32:46Z
dc.date.issued 2011
dc.identifier 10.1159/000333800
dc.identifier.isbn
dc.identifier.issn 10188665
dc.identifier.uri http://hdl.handle.net/10938/15381
dc.description.abstract Background: Cantu syndrome is a rare condition which is characterized clinically by hypertrichosis, cardiomegaly and bone abnormalities. Inherited hypertrichoses are very rare human disorders whose incidence has been estimated as low as 1 in 1 billion. The genetic basis of hypertrichosis is largely unknown, and currently no single gene has been directly implicated in its pathogenesis, although position effects have been reported. Methods: We analyzed the DNA of a patient with Cantu syndrome on the Affymetrix Cytogenetics Whole-Genome 2.7M array for copy number variations (CNVs). We then performed genomic copy number quantification using qPCR, and finally we performed gene expression analysis in the hair follicle for the genes lying within and around the region of the duplication. Results: We identified a 375 kb duplication on chromosome 4q26-27. The duplication region encompassed three genes, which included MYOZ2, USP53 and FABP2. MYOZ2 and USP53 are known to be highly expressed in the cardiac muscle, and we found that USP53 is expressed in the hair follicle. Conclusion: We propose that CNVs involving chromosome 4q26-27 may be associated with Cantu syndrome. CNVs spanning several genes may help define the molecular basis of syndromes which have unrelated clinical features. Copyright © 2012 S. Karger AG, Basel.
dc.format.extent
dc.format.extent Pages: (316-320)
dc.language English
dc.publisher BASEL
dc.relation.ispartof Publication Name: Dermatology; Publication Year: 2011; Volume: 223; no. 4; Pages: (316-320);
dc.relation.ispartofseries
dc.relation.uri
dc.source Scopus
dc.subject.other
dc.title Copy number variations on chromosome 4q26-27 are associated with Cantu syndrome
dc.type Article
dc.contributor.affiliation Kurban, M., Departments of Dermatology and Genetics and Development, Russ Berrie Medical Sciences, Columbia University, 1150 St. Nicholas Avenue, New York, NY 10032, United States
dc.contributor.affiliation Kim, C.A., Genetics Unit, Instituto da Crianca, University of São Paulo, São Paulo, Brazil
dc.contributor.affiliation Kiuru, M., Departments of Dermatology and Genetics and Development, Russ Berrie Medical Sciences, Columbia University, 1150 St. Nicholas Avenue, New York, NY 10032, United States
dc.contributor.affiliation Fantauzzo, K., Departments of Dermatology and Genetics and Development, Russ Berrie Medical Sciences, Columbia University, 1150 St. Nicholas Avenue, New York, NY 10032, United States
dc.contributor.affiliation Cabral, R., Departments of Dermatology and Genetics and Development, Russ Berrie Medical Sciences, Columbia University, 1150 St. Nicholas Avenue, New York, NY 10032, United States
dc.contributor.affiliation Abbas, O., Department of Dermatology, American University of Beirut, Beirut, Lebanon
dc.contributor.affiliation Levy, B., Department of Pathology and Cell Biology, Columbia University, New York, NY, United States
dc.contributor.affiliation Christiano, A.M., Departments of Dermatology and Genetics and Development, Russ Berrie Medical Sciences, Columbia University, 1150 St. Nicholas Avenue, New York, NY 10032, United States
dc.contributor.authorAddress Christiano, A.M.; Departments of Dermatology and Genetics and Development, Russ Berrie Medical Sciences, Columbia University, 1150 St. Nicholas Avenue, New York, NY 10032, United States; email: amc65@columbia.edu
dc.contributor.authorCorporate University: American University of Beirut Medical Center; Faculty: Faculty of Medicine; Department: Dermatology;
dc.contributor.authorDepartment Dermatology
dc.contributor.authorDivision
dc.contributor.authorEmail amc65@columbia.edu
dc.contributor.authorFaculty Faculty of Medicine
dc.contributor.authorInitials Kurban, M
dc.contributor.authorInitials Kim, CA
dc.contributor.authorInitials Kiuru, M
dc.contributor.authorInitials Fantauzzo, K
dc.contributor.authorInitials Cabral, R
dc.contributor.authorInitials Abbas, O
dc.contributor.authorInitials Levy, B
dc.contributor.authorInitials Christiano, AM
dc.contributor.authorOrcidID
dc.contributor.authorReprintAddress Christiano, AM (reprint author), Columbia Univ, Dept Dermatol, 1150 St Nicholas Ave,3rd Floor,Room 307, New York, NY 10032 USA.
dc.contributor.authorResearcherID
dc.contributor.authorUniversity American University of Beirut Medical Center
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dc.description.citedCount 2
dc.description.citedTotWOSCount 4
dc.description.citedWOSCount 4
dc.format.extentCount 5
dc.identifier.articleNo
dc.identifier.coden DERAE
dc.identifier.pubmedID 22310962
dc.identifier.scopusID 84862832731
dc.identifier.url
dc.publisher.address ALLSCHWILERSTRASSE 10, CH-4009 BASEL, SWITZERLAND
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dc.relation.ispartofConferenceCode
dc.relation.ispartofConferenceDate
dc.relation.ispartofConferenceHosting
dc.relation.ispartofConferenceLoc
dc.relation.ispartofConferenceSponsor
dc.relation.ispartofConferenceTitle
dc.relation.ispartofFundingAgency
dc.relation.ispartOfISOAbbr Dermatology
dc.relation.ispartOfIssue 4
dc.relation.ispartOfPart
dc.relation.ispartofPubTitle Dermatology
dc.relation.ispartofPubTitleAbbr Dermatology
dc.relation.ispartOfSpecialIssue
dc.relation.ispartOfSuppl
dc.relation.ispartOfVolume 223
dc.source.ID WOS:000301174200006
dc.type.publication Journal
dc.subject.otherAuthKeyword Cantu syndrome
dc.subject.otherAuthKeyword Copy number variations
dc.subject.otherAuthKeyword Hypertrichosis
dc.subject.otherAuthKeyword Position effects
dc.subject.otherChemCAS Carrier Proteins
dc.subject.otherChemCAS Endopeptidases, 3.4.-
dc.subject.otherChemCAS FABP2 protein, human
dc.subject.otherChemCAS Fatty Acid-Binding Proteins
dc.subject.otherChemCAS MYOZ2 protein, human
dc.subject.otherChemCAS Muscle Proteins
dc.subject.otherChemCAS ubiquitin-specific protease, 3.4.99.-
dc.subject.otherIndex adult
dc.subject.otherIndex article
dc.subject.otherIndex cantu syndrome
dc.subject.otherIndex cardiomegaly
dc.subject.otherIndex case report
dc.subject.otherIndex chromosome 4q
dc.subject.otherIndex chromosome analysis
dc.subject.otherIndex chromosome duplication
dc.subject.otherIndex coarse face
dc.subject.otherIndex controlled study
dc.subject.otherIndex copy number variation
dc.subject.otherIndex developmental disorder
dc.subject.otherIndex DNA determination
dc.subject.otherIndex DNA microarray
dc.subject.otherIndex echocardiography
dc.subject.otherIndex FABP2 gene
dc.subject.otherIndex female
dc.subject.otherIndex gene
dc.subject.otherIndex gene expression
dc.subject.otherIndex genetic analysis
dc.subject.otherIndex genome
dc.subject.otherIndex hair follicle
dc.subject.otherIndex heart murmur
dc.subject.otherIndex heart muscle
dc.subject.otherIndex human
dc.subject.otherIndex human tissue
dc.subject.otherIndex hypertrichosis
dc.subject.otherIndex MYOZ2 gene
dc.subject.otherIndex obesity
dc.subject.otherIndex patent ductus arteriosus
dc.subject.otherIndex polymerase chain reaction
dc.subject.otherIndex priority journal
dc.subject.otherIndex quantitative analysis
dc.subject.otherIndex rib malformation
dc.subject.otherIndex scoliosis
dc.subject.otherIndex synostosis
dc.subject.otherIndex USP53 gene
dc.subject.otherIndex Adolescent
dc.subject.otherIndex Base Sequence
dc.subject.otherIndex Cardiomegaly
dc.subject.otherIndex Carrier Proteins
dc.subject.otherIndex Chromosomes, Human, Pair 4
dc.subject.otherIndex DNA Copy Number Variations
dc.subject.otherIndex Endopeptidases
dc.subject.otherIndex Fatty Acid-Binding Proteins
dc.subject.otherIndex Female
dc.subject.otherIndex Gene Expression Profiling
dc.subject.otherIndex Genetic Diseases, X-Linked
dc.subject.otherIndex Hair Follicle
dc.subject.otherIndex Humans
dc.subject.otherIndex Hypertrichosis
dc.subject.otherIndex Molecular Sequence Data
dc.subject.otherIndex Muscle Proteins
dc.subject.otherIndex Osteochondrodysplasias
dc.subject.otherIndex Sequence Analysis, DNA
dc.subject.otherKeywordPlus AUTOSOMAL-DOMINANT INHERITANCE
dc.subject.otherKeywordPlus AMBRAS-SYNDROME
dc.subject.otherKeywordPlus HYPERTRICHOSIS
dc.subject.otherKeywordPlus DISEASE
dc.subject.otherKeywordPlus INVERSION
dc.subject.otherKeywordPlus PATIENT
dc.subject.otherKeywordPlus OSTEOCHONDRODYSPLASIA
dc.subject.otherKeywordPlus MICE
dc.subject.otherWOS Dermatology


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