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Primary carnitine deficiency: Novel mutations and insights into the cardiac phenotype

Show simple item record Shibbani K. Fahed A.C. Al-Shaar L. Arabi M. Nemer G. Bitar F. Majdalani M.
dc.contributor.editor 2014 2017-10-05T16:08:59Z 2017-10-05T16:08:59Z 2014
dc.identifier 10.1111/cge.12112
dc.identifier.issn 00099163
dc.description.abstract Solute carrier family 22 member 5 (SLC22A5) encodes a sodium-dependent ion transporter responsible for shuffling carnitine across the plasma membrane. This process provides energy for the heart, among other organs allowing beta-oxidation of fatty acids. Mutations in SLC22A5 result in primary carnitine deficiency (PCD), a disorder that manifests with cardiac, skeletal, or metabolic symptoms. We hereby describe two novel mutations in SLC22A5 in two Lebanese families associated exclusively with a cardiac phenotype. The frequency of the cardiac, metabolic and skeletal symptoms in PCD patients remains undefined. All the reported eight PCD patients belonging to five different Lebanese families have an exclusive cardiac phenotype. Carnitine levels appear to be directly linked to the type and position of the mutation and the severity of the phenotypic presentation does not seem to be associated with serum carnitine levels. A comprehensive review of 61 literature-reported PCD cases revealed an exclusive cardiac manifestation frequency at 62.3percent with a very low likelihood of simultaneous occurrence of cardiac and metabolic manifestation. © 2014 John Wiley and Sons A-S.
dc.format.extent Pages: (127-137)
dc.language English
dc.publisher HOBOKEN
dc.relation.ispartof Publication Name: Clinical Genetics; Publication Year: 2014; Volume: 85; no. 2; Pages: (127-137);
dc.source Scopus
dc.subject.other GENBANK: NM_003060
dc.title Primary carnitine deficiency: Novel mutations and insights into the cardiac phenotype
dc.type Article
dc.contributor.affiliation Shibbani, K., Department of Biochemistry and Molecular Genetics, American University of Beirut, Beirut, Lebanon
dc.contributor.affiliation Fahed, A.C., Department of Genetics, Harvard Medical School, Boston, MA, United States
dc.contributor.affiliation Al-Shaar, L., Vascular Medicine Program, American University of Beirut, Beirut, Lebanon
dc.contributor.affiliation Arabi, M., Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon
dc.contributor.affiliation Nemer, G., Department of Biochemistry and Molecular Genetics, American University of Beirut, Beirut, Lebanon
dc.contributor.affiliation Bitar, F., Department of Biochemistry and Molecular Genetics, American University of Beirut, Beirut, Lebanon, Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon
dc.contributor.affiliation Majdalani, M., Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon
dc.contributor.authorAddress Bitar, F.; Department of Biochemistry and Molecular Genetics, American University of Beirut, Beirut, Lebanon; email:
dc.contributor.authorCorporate University: American University of Beirut Medical Center; Faculty: Faculty of Medicine; Department: Vascular Medicine Program;
dc.contributor.authorDepartment Vascular Medicine Program
dc.contributor.faculty Faculty of Medicine
dc.contributor.authorInitials Shibbani, K
dc.contributor.authorInitials Fahed, AC
dc.contributor.authorInitials Al-Shaar, L
dc.contributor.authorInitials Arabi, M
dc.contributor.authorInitials Nemer, G
dc.contributor.authorInitials Bitar, F
dc.contributor.authorInitials Majdalani, M
dc.contributor.authorReprintAddress Bitar, F (reprint author), Amer Univ Beirut, Dept Pediat and Adolescent Med, Bliss St, Beirut, Lebanon.
dc.contributor.authorUniversity American University of Beirut Medical Center
dc.description.cited Amat di San Filippo C, 2006, HUM MUTAT, V27, P513; Burwinkel B, 1999, BIOCHEM BIOPH RES CO, V261, P484, DOI 10.1006-bbrc.1999.1060; Cederbaum SD, 2002, MOL GENET METAB, V77, P195, DOI 10.1016-S1096-7192(02)00169-5; di San Filippo CA, 2004, J BIOL CHEM, V279, P7247, DOI 10.1074-jbc.M309171200; Dobrowolski SE, 2005, HUM MUTAT, V25, P306, DOI 10.1002-humu.20137; Garrett Q, 2008, INVEST OPHTH VIS SCI, V49, P4844, DOI 10.1167-iovs.07-1528; Hulin I., 1997, PATHOPHYSIOLOGY, P92; Lamhonwah AM, 2002, AM J MED GENET, V111, P271, DOI 10.1002-ajmg.10585; Lamhonwah AM, 1998, BIOCHEM BIOPH RES CO, V252, P396, DOI 10.1006-bbrc.1998.9679; Lamhonwah AM, 2004, J INHERIT METAB DIS, V27, P473, DOI 10.1023-B:BOLI.0000037339.25821.87; MA SWY, 1986, CAN J PHYSIOL PHARM, V64, P1252; Makhseed N, 2004, J INHERIT METAB DIS, V27, P778, DOI 10.1023-B:BOLI.0000045837.23328.f4; Mayatepek E, 2000, Hum Mutat, V15, P118, DOI 10.1002-(SICI)1098-1004(200001)15:1118::AID-HUMU283.0.CO;2-8; Nezu JI, 1999, NAT GENET, V21, P91, DOI 10.1038-5030; Rahbeeni Z, 2002, J INHERIT METAB DIS, V25, P363, DOI 10.1023-A:1020143632011; Spiekerkoetter U, 2003, J INHERIT METAB DIS, V26, P613, DOI 10.1023-A:1025968502527; Tachikawa M, 2010, INVEST OPHTH VIS SCI, V51, P430, DOI 10.1167-iovs.09-4080; Tamai I, 1998, J BIOL CHEM, V273, P20378, DOI 10.1074-jbc.273.32.20378; Tang NLS, 2002, HUM MUTAT, V20, DOI 10.1002-humu.9053; Tang NLS, 1999, HUM MOL GENET, V8, P655, DOI 10.1093-hmg-8.4.655; TEIN I, 1990, PEDIATR RES, V28, P247, DOI 10.1203-00006450-199009000-00020; TRIPP ME, 1981, NEW ENGL J MED, V305, P385, DOI 10.1056-NEJM198108133050707; Vaz FM, 1999, HUM GENET, V105, P157, DOI 10.1007-s004390051079; Wang YH, 2000, J BIOL CHEM, V275, P20782, DOI 10.1074-jbc.M000194200; Wang YH, 1999, P NATL ACAD SCI USA, V96, P2356, DOI 10.1073-pnas.96.5.2356; Wang YH, 2001, GENET MED, V3, P387, DOI 10.1097-00125817-200111000-00002; Westerblad H, 2010, EXP CELL RES, V316, P3093, DOI 10.1016-j.yexcr.2010.05.019; Xu SJ, 2010, MOL VIS, V16, P1823; Yamak AA, 2007, CLIN GENET, V72, P59, DOI 10.1111-j.1399-0004.2007.00814.x; ZURLO F, 1990, J CLIN INVEST, V86, P1423, DOI 10.1172-JCI114857
dc.description.citedCount 1
dc.description.citedTotWOSCount 1
dc.description.citedWOSCount 0
dc.format.extentCount 11
dc.identifier.coden CLGNA
dc.identifier.scopusID 84892483131
dc.publisher.address 111 RIVER ST, HOBOKEN 07030-5774, NJ USA
dc.relation.ispartOfISOAbbr Clin. Genet.
dc.relation.ispartOfIssue 2
dc.relation.ispartofPubTitle Clinical Genetics
dc.relation.ispartofPubTitleAbbr Clin. Genet.
dc.relation.ispartOfVolume 85
dc.source.ID WOS:000329511700012
dc.type.publication Journal
dc.subject.otherAuthKeyword Dilated cardiomyopathy
dc.subject.otherAuthKeyword Heart
dc.subject.otherAuthKeyword Primary carnitinte deficiency
dc.subject.otherAuthKeyword SLC22A5
dc.subject.otherChemCAS carnitine, 461-06-3, 541-15-1, 56-99-5
dc.subject.otherChemCAS phenylalanine, 3617-44-5, 63-91-2
dc.subject.otherIndex carnitine
dc.subject.otherIndex carnitine transporter 2
dc.subject.otherIndex phenylalanine
dc.subject.otherIndex article
dc.subject.otherIndex bronchitis
dc.subject.otherIndex cardiomegaly
dc.subject.otherIndex cardiomyopathy
dc.subject.otherIndex carnitine deficiency
dc.subject.otherIndex child
dc.subject.otherIndex clinical article
dc.subject.otherIndex congenital cataract
dc.subject.otherIndex disease severity
dc.subject.otherIndex DNA sequence
dc.subject.otherIndex dyspnea
dc.subject.otherIndex energy expenditure
dc.subject.otherIndex environmental factor
dc.subject.otherIndex exercise tolerance
dc.subject.otherIndex family
dc.subject.otherIndex fatty acid metabolism
dc.subject.otherIndex fatty acid oxidation
dc.subject.otherIndex female
dc.subject.otherIndex fever
dc.subject.otherIndex gene mutation
dc.subject.otherIndex genetic analysis
dc.subject.otherIndex genetic association
dc.subject.otherIndex genetic screening
dc.subject.otherIndex haplotype
dc.subject.otherIndex heart failure
dc.subject.otherIndex heart function
dc.subject.otherIndex heart left ventricle ejection fraction
dc.subject.otherIndex heart performance
dc.subject.otherIndex human
dc.subject.otherIndex hypoglycemic coma
dc.subject.otherIndex infant
dc.subject.otherIndex Lebanon
dc.subject.otherIndex liver function
dc.subject.otherIndex male
dc.subject.otherIndex mitral valve regurgitation
dc.subject.otherIndex muscle hypotonia
dc.subject.otherIndex nonsense mutation
dc.subject.otherIndex nucleotide sequence
dc.subject.otherIndex oxygen consumption
dc.subject.otherIndex phenotype
dc.subject.otherIndex polymerase chain reaction
dc.subject.otherIndex population
dc.subject.otherIndex preschool child
dc.subject.otherIndex priority journal
dc.subject.otherIndex thorax radiography
dc.subject.otherIndex transthoracic echocardiography
dc.subject.otherIndex upper respiratory tract infection
dc.subject.otherIndex weight gain
dc.subject.otherKeywordPlus SODIUM STIMULATION
dc.subject.otherKeywordPlus ENERGY-EXPENDITURE
dc.subject.otherKeywordPlus CATION TRANSPORTER
dc.subject.otherKeywordPlus OCTN2 MUTATIONS
dc.subject.otherKeywordPlus SLC22A5 GENE
dc.subject.otherKeywordPlus IDENTIFICATION
dc.subject.otherKeywordPlus CARDIOMYOPATHY
dc.subject.otherKeywordPlus METABOLISM
dc.subject.otherKeywordPlus DEFECT
dc.subject.otherWOS Genetics and Heredity

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