caa a22 4500 469045124 CHVBK 20180323132822.0 cr unu---uuuuu 170328e19920301xx s 000 0 eng 10.1007/BF01799626 doi (NATIONALLICENCE)springer-10.1007/BF01799626 Molecular basis of inherited medium-chain acyl-CoA dehydrogenase deficiency causing sudden child death [Elektronische Daten] [D. Kelly, D. Hale, S. Rutledge, M. Ogden, A. Whelan, Z. Zhang, A. Strauss] Summary: Deficiency of medium-chain acyl-CoA dehydrogenase (MCAD) is an important cause of sudden death in children. The majority of surviving individuals with MCAD deficiency studied to date are homozygous for a single point mutation at bp 985 of the MCAD mRNA (A985G). We have now identified a four-base-pair deletion in exon 11 of one allele of the MCAD gene in an American child who died of MCAD deficiency. The deletion mutation results in a frameshift and premature termination codon in the mutant MCAD mRNA. The second mutant allele contained the common point mutation A985G, and thus the proband was a compound heterozygote. Protein immunoblot analysis of the child's liver proteins revealed that the mutant MCAD proteins were barely detectable. Allele-specific oligonucleotide hybridization analysis performed on amplified exon 11 of the child's MCAD gene clearly identified both mutations. MCAD RFLP analysis of the patient's DNA revealed heterozygosity at the Taq I MCAD RFLP site, thus, the two mutations are associated with different haplotypes. Therefore, we have identified a new mutation in the MCAD gene and have developed a nucleic-acid-based screening approach which allows thepost mortem identification of MCAD deficiency. SSIEM and Kluwer Academic Publishers, 1992 Kelly D. Cardiovascular Division Box 8086, Department of Medicine, Washington University School of Medicine, 660 South Euclid Ave., 63110, St. Louis, MO, USA aut Hale D. Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA aut Rutledge S. Department of Pediatrics, The University of Alabama, Birmingham, Alabama, USA aut Ogden M. Cardiovascular Division Box 8086, Department of Medicine, Washington University School of Medicine, 660 South Euclid Ave., 63110, St. Louis, MO, USA aut Whelan A. Cardiovascular Division Box 8086, Department of Medicine, Washington University School of Medicine, 660 South Euclid Ave., 63110, St. Louis, MO, USA aut Zhang Z. Cardiovascular Division Box 8086, Department of Pediatrics, Washington University School of Medicine, 660 South Euclid Ave., 63110, St. Louis, MO, USA aut Strauss A. Cardiovascular Division Box 8086, Department of Pediatrics, Washington University School of Medicine, 660 South Euclid Ave., 63110, St. Louis, MO, USA aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/2(1992-03-01), 171-180 0141-8955 15:2<171 1992 15 10545 https://doi.org/10.1007/BF01799626 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF01799626 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Kelly D. Cardiovascular Division Box 8086, Department of Medicine, Washington University School of Medicine, 660 South Euclid Ave., 63110, St. Louis, MO, USA aut NATIONALLICENCE 700 1- Hale D. Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA aut NATIONALLICENCE 700 1- Rutledge S. Department of Pediatrics, The University of Alabama, Birmingham, Alabama, USA aut NATIONALLICENCE 700 1- Ogden M. Cardiovascular Division Box 8086, Department of Medicine, Washington University School of Medicine, 660 South Euclid Ave., 63110, St. Louis, MO, USA aut NATIONALLICENCE 700 1- Whelan A. Cardiovascular Division Box 8086, Department of Medicine, Washington University School of Medicine, 660 South Euclid Ave., 63110, St. Louis, MO, USA aut NATIONALLICENCE 700 1- Zhang Z. Cardiovascular Division Box 8086, Department of Pediatrics, Washington University School of Medicine, 660 South Euclid Ave., 63110, St. Louis, MO, USA aut NATIONALLICENCE 700 1- Strauss A. Cardiovascular Division Box 8086, Department of Pediatrics, Washington University School of Medicine, 660 South Euclid Ave., 63110, St. Louis, MO, USA aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/2(1992-03-01), 171-180 0141-8955 15:2<171 1992 15 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer