Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype

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• 作者：Ann Bowron (1) (2) (3)
  Julie Honeychurch (4)
  Maggie Williams (4)
  Beverley Tsai-Goodman (2) (5)
  Nicol Clayton (2)
  Lucy Jones (2)
  Graham J. Shortland (6)
  Shakeel A. Qureshi (7)
  Simon J. R. Heales (8) (9)
  Colin G. Steward (2) (3)
  
  1. Department of Clinical Biochemistry ; University Hospitals Bristol NHS Trust ; Bristol ; BS2 8HW ; UK
  2. NHS Barth Syndrome Service ; Bristol Royal Hospital for Children ; University Hospitals Bristol NHS Trust ; Bristol ; BS2 8BJ ; UK
  3. School of Cellular & Molecular Medicine ; School of Medical Sciences ; University Walk ; Bristol ; BS8 1TD ; UK
  4. Bristol Genetics Laboratory ; North Bristol NHS Trust ; Bristol ; BS10 5NB ; UK
  5. Department of Paediatric Cardiology ; Bristol Royal Hospital for Children ; University Hospitals Bristol NHS Trust ; Bristol ; BS2 8BJ ; UK
  6. Department of Metabolic Disease ; University Hospitals Wales ; Cardiff ; CF14 4XW ; UK
  7. Department of Paediatric Cardiology ; Evelina Children鈥檚 Hospital ; Guy鈥檚 and St Thomas鈥?NHS Foundation Trust ; London ; SE1 7EH ; UK
  8. Department of Chemical Pathology ; Great Ormond Street Hospital NHS Foundation Trust ; London ; WC1N 3JH ; UK
  9. University College London Institute of Child Health ; London ; WC1N 1EH ; UK
  
• 刊名：Journal of Inherited Metabolic Disease
• 出版年：2015
• 出版时间：March 2015
• 年：2015
• 卷：38
• 期：2
• 页码：279-286
• 全文大小：652 KB
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  5. Bowron, A, Frost, R, Powers, VC, Thomas, P, Heales, SR, Steward, C (2013) Diagnosis of Barth syndrome using a novel LC-MS/MS method for leukocyte cardiolipin analysis. J Inherit Metab Dis 36: pp. 741-746 CrossRef
  6. Clarke, S, Bowron, A, Gonzalez, I (2013) Barth syndrome. Orphanet J Rare Dis 8: pp. 23 CrossRef
  7. Fan, Y, Steller, J, Gonzalez, IL (2013) A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a case with atypical Barth syndrome. JIMD Reports 11: pp. 99-106 CrossRef
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  9. Hastings, R, Steward, CG, Tsai-Goodman, B, Newbury-Ecob, RA (2009) Dysmorphology of Barth syndrome. Clin Dysmorphol 18: pp. 185-187 CrossRef
  10. Houtkooper, RH, Rodenburg, RJ, Thiels, C (2009) Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography-mass spectrometry as a diagnostic test for Barth syndrome. Anal Biochem 387: pp. 230-237 CrossRef
  11. Kelley, RI, Cheatham, JP, Clark, BJ (1991) X-linked dilated cardiomyopathy with neutropenia, growth retardation and 3-methylglutaconic acid. J Pediatr 119: pp. 738-747 CrossRef
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  13. Li, GL, Chen, SL, Thompson, MN, Greenberg, ML (2007) New insights into the regulation of cardiolipin biosynthesis in yeast: implications for Barth syndrome. Biochim Biophys Acta-Mol Cell Biol Lipids 1771: pp. 432-441 CrossRef
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  18. Schlame, M, Ren, MD, Xu, Y, Greenberg, ML, Haller, I (2005) Molecular symmetry in mitochondrial cardiolipins. Chem Phys Lipids 138: pp. 38-49 CrossRef
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  24. Valianpour, F, Wanders, RJA, Overmars, H (2002) Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts. J Pediatr 141: pp. 729-733 CrossRef
  25. Vreken, P, Valianpour, F, Nijtmans, LG (2000) Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome. Biochem Biophys Res Commun 279: pp. 378-382 CrossRef
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  27. Wortmann, SB, Kluijtmans, LA, Engelke, UFH, Wevers, RA, Morava, E (2012) The 3-methylglutaconic acidurias: what鈥檚 new?. J Inherit Metab Dis 35: pp. 13-22 CrossRef
  28. Xu, Y, Condell, M, Plesken, H (2006) A Drosophila model of Barth syndrome. Proc Natl Acad Sci U S A 103: pp. 11584-11588 CrossRef
  
• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Internal Medicine
  Metabolic Diseases
  Human Genetics
  Biochemistry
  Pediatrics
  
• 出版者：Springer Netherlands
• ISSN：1573-2665

文摘

Barth syndrome (BTHS) is an X-linked disorder characterised by cardiac and skeletal myopathy, growth delay, neutropenia and 3-methylglutaconic aciduria (3-MGCA). Patients have TAZ gene mutations which affect metabolism of cardiolipin, resulting in low tetralinoleoyl cardiolipin (CL4), an increase in its precursor, monolysocardiolipin (MLCL), and an increased MLCL/CL4 ratio. During development of a diagnostic service for BTHS, leukocyte CL4 was measured in 156 controls and 34 patients with genetically confirmed BTHS. A sub-group of seven subjects from three unrelated families was identified with leukocyte CL4 concentrations within the control range. This had led to initial false negative disease detection in two of these patients. MLCL/CL4 in this subgroup was lower than in other BTHS patients but higher than controls, with no overlap between the groups. TAZ gene mutations in these families are all predicted to be pathological. This report describes the clinical histories of these seven individuals with an atypical phenotype: some features were typical of BTHS (five have had cardiomyopathy, one family has a history of male infant deaths, three have growth delay and five have 3-MGCA) but none has persistent neutropenia, five have excellent exercise tolerance and two adults are asymptomatic. This report also emphasises the importance of measurement of MLCL/CL4 ratio rather than CL4 alone in the biochemical diagnosis of the BTHS.