Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome

摘要: Loss-of-function mutations in the G4.5 gene have been shown to cause Barth syndrome (BTHS), an X-linked disorder characterized by cardiac and skeletal myopathy, short stature, neutropenia. We recently reported a family with severe cardiomyopathy described as isolated noncompaction of left ventricular myocardium (INVM). Other findings associated BTHS (skeletal neutropenia, growth retardation, elevated urinary organic acids, mitochondrial abnormalities) were either absent or inconsistent. A linkage study X chromosome localized INVM Xq28 region near locus, suggesting that these disorders are allelic. screened for this SSCP direct sequencing found novel glycine-to-arginine substitution at position 197. This is conserved homologous Caenorhabditis elegans protein. conclude allelic variant specific effect on heart. finding provides further structure-function information about product has implications unexplained cases infantile hypertrophic males.