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GENATLAS PHENOTYPE
last update : 31-05-2019
Symbol BTHS
Location Xq28
Name Barth syndrome
Other name(s)
  • 3-methylglutaconic aciduria, type II
    • Corresponding gene TAZ
    Other symbol(s) EFE2, EFE, EMFE, G4, MGCA2
    Main clinical features
  • results in abnormal metabolism of the mitochondrial phospholipid cardiolipin (PMID: 16873891))
  • dilated cardiomyopathy associated with skeletal myopathy, short stature, neutropenia and abnormal mitochondria, cardiolipin (CL) deficiency and 3-methylglutaconic aciduria (decreased CL levels in skin fibroblasts)
  • infantile onset of dilated cardiomyopathy (PMID: 21068380)), severe hypoglycemia, lactic acidosis and severe dilated cardiomyopathy (PMID: 26853223))
  • mitochondrial size was more variable and the total mitochondrial volume per cell increased mainly due to clusters of fragmented mitochondria inside nuclear invaginations (PMID: 17043667))
    • Genetic determination sex linked
    Related entries . including isolated endomyocardial fibroelastosis 2 and 3-methylglutaconic aciduria
    Function/system disorder cardiovascular
    connective tissue
    Type disease
    Gene product
    Name tafazzin (TAZ)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types     mutation in the fifth motif, identified as critical for the glycerolphosphate acyltransferase family and essential for tafazzin function
    Remark(s)
  • mitochondrial abnormalities of BTHS involve adhesions of inner mitochondrial membranes with subsequent collapse of the intracristae space (PMID: 17043667))
  • MLCL (monolysocardiolipins)/CL ratio in fibroblasts is a better diagnostic marker than CL (cardiolipin) alone (PMID: 16873891))
  • loss of mature cardiolipin species results in unstable respiratory chain supercomplexes, thereby affecting Complex I biogenesis, respiratory activities and subsequent pathology (PMID: 16857210))
  • pharmacological restoration of mitophagy may provide a novel treatment for this lethal condition (PMID: 25919711))