When silence is noise: infantile-onset Barth syndrome caused by a synonymous substitution affecting TAZ gene transcription

Clinical Genetics

Volumn 90, Issue 5, 2016, Pages 461-465

  Ferri, L ^a,b   Dionisi Vici, C ^c   Taurisano, R ^c   Vaz, F M ^d   Guerrini, R ^a,b   Morrone, A ^a,b  

^a UNIVERSITY OF FLORENCE   (Italy)

^b UNIVERSITY OF FLORENCE   (Italy)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^d UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

Barth syndrome; exon skipping; silent mutation; synonymous mutation; TAZ gene

Indexed keywords

AMINO ACID; BISOPROLOL; CARDIOLIPIN; GLUCOSE; GLYCINE; LISINOPRIL; LYSINE; MESSENGER RNA; MONOLYSOCARDIOLIPIN; NUCLEOTIDE; TAFAZZIN PROTEIN; TETRALINOLEOYL CARDIOLIPIN; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG; LYSOPHOSPHOLIPID; TAZ PROTEIN, HUMAN; TETRALINOLEOYLCARDIOLIPIN;

ACIDURIA; ALTERNATIVE RNA SPLICING; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; BARTH SYNDROME; BIRTH; BLOOD BIOCHEMISTRY; BLOOD GAS ANALYSIS; CASE REPORT; CHILD; COMPUTER MODEL; CONGESTIVE CARDIOMYOPATHY; CONTROLLED STUDY; DISEASE SEVERITY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ECHOCARDIOGRAPHY; GENE DELETION; GENE EXPRESSION; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; GLUCOSE INFUSION; HEART FIBROBLAST; HETEROZYGOTE; HUMAN; HYPERLACTATEMIA; HYPOGLYCEMIA; LACTIC ACIDOSIS; MALE; METABOLIC ACIDOSIS; MOLECULAR GENETICS; MUSCLE BIOPSY; NEUTROPENIA; ONSET AGE; PRESCHOOL CHILD; PRIORITY JOURNAL; RISK FACTOR; RNA PROCESSING; VENTRICULAR NONCOMPACTION; BLOOD; EXON; FEMALE; GENETICS; MUTATION; PATHOPHYSIOLOGY;

ACIDOSIS, LACTIC; BARTH SYNDROME; CARDIOLIPINS; CARDIOMYOPATHY, DILATED; CHILD; EXONS; FEMALE; HETEROZYGOTE; HUMANS; HYPOGLYCEMIA; LYSOPHOSPHOLIPIDS; MALE; MUTATION; TRANSCRIPTION FACTORS; TRANSCRIPTION, GENETIC;

EID: 84959467639     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12756     Document Type: Article

References (22)

1. Barth PG, Scholte HR, Berden JA et al. An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes. J Neurol Sci 1983: 62: 327–355.
2. Ferri L, Donati MA, Funghini S et al. New clinical and molecular insights on Barth syndrome. Orphanet J Rare Dis 2013: 8: 27.
3. Spencer CT, Bryant RM, Day J et al. Cardiac and clinical phenotype in Barth syndrome. Pediatrics 2006: 118: e337–e346.
4. Clarke SL, Bowron A, Gonzalez IL et al. Barth syndrome. Orphanet J Rare Dis 2013: 8: 23.
5. Bione S, D'Adamo 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: 385–389.
6. Houtkooper RH, Turkenburg M, Poll-The BT et al. The enigmatic role of tafazzin in cardiolipin metabolism. Biochim Biophys Acta 1788: 2009: 2003–2014.
7. Schlame M, Rua D, Greenberg ML. The biosynthesis and functional role of cardiolipin. Prog Lipid Res 2000: 39: 257–288.
8. Gonzalvez F, Gottlieb E. Cardiolipin: setting the beat of apoptosis. Apoptosis 2007: 12: 877–885.
9. Schlame M, Towbin JA, Heerdt PM, Jehle R, DiMauro S, Blanck TJ. Deficiency of tetralinoleoyl-cardiolipin in Barth syndrome. Ann Neurol 2002: 51: 634–637.
10. Gonzalez IL. Barth syndrome: TAZ gene mutations, mRNAs, and evolution. Am J Med Genet A 2005: 134: 409–414.
11. Lu B, Kelher MR, Lee DP et al. Complex expression pattern of the Barth syndrome gene product tafazzin in human cell lines and murine tissues. Biochem Cell Biol 2004: 82: 569–576.
12. Xu Y, Zhang S, Malhotra A et al. Characterization of tafazzin splice variants from humans and fruit flies. J Biol Chem 2009: 284: 29230–29239.
13. Houtkooper RH, Rodenburg RJ, Thiels C et al. 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 2009: 387: 230–237.
14. Kulik W, van Lenthe H, Stet FS et al. Bloodspot assay using HPLC-tandem mass spectrometry for detection of Barth syndrome. Clin Chem 2008: 54: 371–378.
15. Bowron A, Honeychurch J, Williams M et al. Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype. J Inherit Metab Dis 2015: 38: 279–286.
16. Hunt RC, Simhadri VL, Iandoli M, Sauna ZE, Kimchi-Sarfaty C. Exposing synonymous mutations. Trends Genet 2014: 30: 308–321.
17. Sauna ZE, Kimchi-Sarfaty C. Understanding the contribution of synonymous mutations to human disease. Nat Rev Genet 2011: 12: 683–691.
18. Hijikata A, Yura K, Ohara O, Go M. Structural and functional analyses of Barth syndrome-causing mutations and alternative splicing in the tafazzin acyltransferase domain. Meta Gene 2015: 4: 92–106.
19. Du YZ, Dickerson C, Aylsworth AS, Schwartz CE. A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS). J Med Genet 1998: 35: 456–462.
20. Korvatska O, Strand NS, Berndt JD et al. Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS). Hum Mol Genet 2013: 22: 3259–3268.
21. Ramser J, Ahearn ME, Lenski C et al. Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy. Am J Hum Genet 2008: 82: 188–193.
22. Zhang H, Li J, Zhang X et al. Analysis of the IDS gene in 38 patients with Hunter syndrome: the c.879G > A (p.Gln293Gln) synonymous variation in a female create exonic splicing. PLoS One 2011: 6: e22951.