A NOVEL INTRONIC SPLICE SITE TAFAZZIN GENE MUTATION DETECTED PRENATALLY IN A FAMILY WITH BARTH SYNDROME
Bakšienė M, Benušienė E, Morkūnienė A, Ambrozaitytė L, Utkus A, Kučinskas V
*Corresponding Author: Marija Bakšienė, M.D., Department of Human and Medical Genetics, Vilnius University, Santarişkių Str. 2, LT-08861 Vilnius, Lithuania. Tel: +3702365116. E-mail: m.baksiene@gmail. com
page: 95

REFERENCES

1. 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. 2. Barth Syndrome Foundation Website: Frequently Asked Questions. 2006. http://www.barthsyndrome.org. 3. 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. 4. 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. 5. 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. 6. 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. 7. 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. 8. 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. 9. 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. 10. Klingenberg M. Cardiolipin and mitochondrial carriers. Biochim Biophys Acta. 2009; 1788(10): 2048-2058. 11. 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. 12. 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. 13. 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. 14. Koressaar T, Remm M. Enhancements and modifications of primer design program Primer3. Bioinformatics. 2007; 23(10): 1289-1291. 15. Gonzalez IL. Human tafazzin (TAZ) gene mutation and variation database. 2012. (Science and research section of http://www.barthsyndrome.org). 16. 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. 17. 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. 18. 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. 19. 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. 20. 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. 21. 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.



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