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A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome


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Barth PG, Scholte HR, Berden JM, van der Klei-Van Moorsel JM, Luyt Houwen IE, van’t Veer Korthof ET, et al. An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leukocytes. J Neurol Sci 1983; 62(1-3): 327-355.BarthPGScholteHRBerdenJMvan der Klei-Van MoorselJMLuyt HouwenIEvan’t Veer KorthofETet al.An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leukocytesJ Neurol Sci 1983621-332735510.1016/0022-510X(83)90209-5Search in Google Scholar

Barth Syndrome Foundation Website: Frequently Asked Questions. 2006. http://www.barthsyndrome.org.Barth Syndrome Foundation Website: Frequently Asked Questions2006http://www.barthsyndrome.orgSearch in Google Scholar

Kelley RI, Cheatham JP, Clark BJ, Nigro MA, Powell BR, Sherwood GW, et al. X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria. J Pediatr. 1991; 119(5): 738-747.KelleyRICheathamJPClarkBJNigroMAPowellBRSherwoodGWet al.X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduriaJ Pediatr1991119573874710.1016/S0022-3476(05)80289-6Search in Google Scholar

Wortmann SB, Kluijtmans LA, Engelke UFH, Wevers RA, Morava E. The 3-methylglutaconic acidurias: What’s new? J Inherit Metab Dis. 2012; 35(1): 13-22.WortmannSBKluijtmansLAEngelkeUFHWeversRAMoravaEThe 3-methylglutaconic acidurias: What’s new?J Inherit Metab Dis2012351132210.1007/s10545-010-9210-7324918120882351Search in Google Scholar

Steward CG, Newbury-Ecob RA, Hastings R, Smithson SF, Tsai-Goodman B, Quarrell OW, et al. Barth syndrome: An X-linked cause of fetal cardiomyopathy and stillbirth. Prenatal Diag. 2010; 30(10): 970-976.StewardCGNewbury-EcobRAHastingsRSmithsonSFTsai-GoodmanBQuarrellOWet al.Barth syndrome: An X-linked cause of fetal cardiomyopathy and stillbirthPrenatal Diag2010301097097610.1002/pd.2599299530920812380Search in Google Scholar

Spencer CT, Bryant RM, Day J, Gonzalez IL, Colan SD, Thompson WR, et al. Cardiac and clinical phenotype in Barth syndrome. Pediatrics. 2006; 118(2): e337-e346.SpencerCTBryantRMDayJGonzalezILColanSDThompsonWRet al.Cardiac and clinical phenotype in Barth syndromePediatrics20061182e337e34610.1542/peds.2005-266716847078Search in Google Scholar

Bione S, Dadamo P, Maestrini E, Gedeon AK, Bolhuis PA, Toniolo D. A novel X-linked gene, G4.5. is responsible for Barth syndrome. Nat Genet. 1996; 12(4): 385-389.BioneSDadamoPMaestriniEGedeonAKBolhuisPATonioloDA novel X-linked gene, G4.5. is responsible for Barth syndromeNat Genet199612438538910.1038/ng0496-3858630491Search in Google Scholar

Ades LC, Gedeon AK, Wilson MJ, Latham M, Partington MW, Mulley JC, et al. Barth syndrome – Clinical features and confirmation of gene localization to distal Xq28. Am J Med Genet. 1993; 45(3): 327-334.AdesLCGedeonAKWilsonMJLathamMPartingtonMWMulleyJCet al.Barth syndrome – Clinical features and confrmation of gene localization to distal Xq28Am J Med Genet199345332733410.1002/ajmg.13204503098434619Search in Google Scholar

Bolhuis PA, Hensels GW, Hulsebos TJM, Baas F, Barth PG. Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth Syndrome) to Xq28. Am J Hum Genet. 1991; 48(3): 481-485.BolhuisPAHenselsGWHulsebosTJMBaasFBarthPGMapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth Syndrome) to Xq28Am J Hum Genet1991483481485Search in Google Scholar

Klingenberg M. Cardiolipin and mitochondrial carriers. Biochim Biophys Acta. 2009; 1788(10): 2048-2058.KlingenbergMCardiolipin and mitochondrial carriersBiochim Biophys Acta20091788102048205810.1016/j.bbamem.2009.06.00719539604Search in Google Scholar

Ferri L, Donati MA, Funghini S, Malvagia S, Catarzi S, Lugli L, et al. New clinical and molecular insights on Barth syndrome. Orphanet J Rare Dis. 2013; 8(1): 27. doi: 10.118/1750-1172-8-27.FerriLDonatiMAFunghiniSMalvagiaSCatarziSLugliLet al.New clinical and molecular insights on Barth syndromeOrphanet J Rare Dis20138127doi: 10.118/1750-1172-8-27Open DOISearch in Google Scholar

Khuchua Z, Yue Z, Batts L, Strauss AW. A zebrafish model of human Barth syndrome reveals the essential role of tafazzin in cardiac development and function. Circ Res. 2006; 99(2): 201-208.KhuchuaZYueZBattsLStraussAWA zebrafish model of human Barth syndrome reveals the essential role of tafazzin in cardiac development and functionCirc Res200699220120810.1161/01.RES.0000233378.95325.ce16794186Search in Google Scholar

Untergasser A, Cutcutache I, Koressaar T, Ye J, Faircloth BC, Remm M, et al. Primer3 – new capabilities and interfaces. Nucleic Acids Res. 2012; 40(15): e115.UntergasserACutcutacheIKoressaarTYeJFairclothBCRemmMet al.Primer3 – new capabilities and interfacesNucleic Acids Res20124015e11510.1093/nar/gks596Search in Google Scholar

Koressaar T, Remm M. Enhancements and modifications of primer design program Primer3. Bioinformatics. 2007; 23(10): 1289-1291.KoressaarTRemmMEnhancements and modifications of primer design program Primer3Bioinformatics200723101289129110.1093/bioinformatics/btm091Search in Google Scholar

Gonzalez IL. Human tafazzin (TAZ) gene mutation and variation database. 2012. (Science and research section of http://www.barthsyndrome.org).GonzalezILHuman tafazzin (TAZ) gene mutation and variation database2012Science and research section ofhttp://www.barthsyndrome.orgSearch in Google Scholar

Chen R, Tsuji T, Ichida F, Boules KR, Yu X, Watanabe S, et al. Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction. Mol Genet Metab. 2002; 77(4): 319-325.ChenRTsujiTIchidaFBoulesKRYuXWatanabeSet al.Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompactionMol Genet Metab200277431932510.1016/S1096-7192(02)00195-6Search in Google Scholar

Roberts AE, Nixon C, Steward CG, Gauvreau K, Maisenbacher M, Fletcher M, et al. The Barth Syndrome Registry: Distinguishing disease characteristics and growth data from a longitudinal study. Am J Med Genet Part A. 2012; 158A(11): 2726-2732.RobertsAENixonCStewardCGGauvreauKMaisenbacherMFletcherMet al.The Barth Syndrome Registry: Distinguishing disease characteristics and growth data from a longitudinal studyAm J Med Genet Part A2012158A112726273210.1002/ajmg.a.3560923045169Search in Google Scholar

Desmet FO, Hamroun D, Lalande M, Collod-Beroud G, Claustres M, Beroud C. Human Splicing Finder: An online bioinformatics tool to predict splicing signals. Nucleic Acid Res. 2009; 37(9): e67.DesmetFOHamrounDLalandeMCollod-BeroudGClaustresMBeroudCHuman Splicing Finder: An online bioinformatics tool to predict splicing signalsNucleic Acid Res2009379e6710.1093/nar/gkp215268511019339519Search in Google Scholar

Sakamoto O, Ohura T, Katsushima Y, Fujiwara I, Ogawa E, Miyabayashi S, et al. A novel intronic mutation of the TAZ (G4.5) gene in a patient with Barth syndrome: Creation of a 5-prime splice donor site with variant GC consensus and elongation of the upstream exon. Hum Genet. 2001; 109(5): 559-563.SakamotoOOhuraTKatsushimaYFujiwaraIOgawaEMiyabayashiSet al.A novel intronic mutation of the TAZ (G4.5) gene in a patient with Barth syndrome: Creation of a 5-prime splice donor site with variant GC consensus and elongation of the upstream exonHum Genet2001109555956310.1007/s00439-001-0612-311735032Search in Google Scholar

Clarke SL, Bowron A, Gonzalez IL, Groves SJ, Newbury-Ecob R, Clayton N, et al. Barth syndrome. Orphanet J Rare Dis. 2013; 8: 23. doi: 10.11861760-1172-8-23.ClarkeSLBowronAGonzalezILGrovesSJNewbury-EcobRClaytonNet al.Barth syndromeOrphanet J Rare Dis2013823doi: 10.11861760-1172-8-23Open DOISearch in Google Scholar

Cosson L, Toutain A, Simard G, Kulik W, Matyas G, Guichet A, et al. Barth syndrome in a female patient. Mol Genet Metab. 2012; 106(1): 115-120.CossonLToutainASimardGKulikWMatyasGGuichetAet al.Barth syndrome in a female patientMol Genet Metab2012106111512010.1016/j.ymgme.2012.01.01522410210Search in Google Scholar

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