Phenotypic manifestations of the OCTN2 V295X mutation: Sudden infant death and carnitine-responsive cardiomyopathy in Roma families

In two non‐consanguineous Hungarian Roma (Gypsy) children who presented with cardiomyopathy and decreased plasma carnitine levels, we identified homozygous deletion of 17081C of the SLC22A5 gene that results in a frameshift at R282D and leads ultimately to a premature stop codon (V295X) in the OCTN2...

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Veröffentlicht in:	American journal of medical genetics 2004-12, Vol.131A (2), p.121-126
Hauptverfasser:	Melegh, Béla, Bene, Judit, Mogyorósy, Gábor, Havasi, Viktória, Komlósi, Katalin, Pajor, László, Oláh, Éva, Kispál, Gyula, Sumegi, Balázs, Méhes, Károly
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Sequence Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy Base Sequence Biological and medical sciences Cardiology. Vascular system Cardiomyopathies - drug therapy Cardiomyopathies - genetics Cardiomyopathies - pathology carnitine Carnitine - blood Carnitine - therapeutic use carnitine deficiency Child, Preschool DNA DNA Mutational Analysis Emergency and intensive care: neonates and children. Prematurity. Sudden death Female General aspects. Genetic counseling Heart histology Humans Hungary Infant Intensive care medicine Liver - pathology Male Medical genetics Medical sciences Molecular Sequence Data Mutation Myocarditis. Cardiomyopathies Myocardium - pathology OCTN2 Organic Cation Transport Proteins - genetics Pedigree Phenotype Roma Sequence Deletion SIDS SLC22A5 Solute Carrier Family 22 Member 5 Sudden Infant Death - blood Sudden Infant Death - genetics
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