Identification of Four Novel Mutations in Patients with Carnitine Palmitoyltransferase II (CPT II) Deficiency
Carnitine palmitoyltransferase II (CPT II) deficiency, an autosomal recessive disorder of fatty-acid oxidation, presents as three distinct phenotypes (neonatal, infantile, and adult onset). In order to investigate the molecular basis of these three phenotypes, six patients with CPT II deficiency hav...
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Published in | Molecular genetics and metabolism Vol. 64; no. 4; pp. 229 - 236 |
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Main Authors | , , , , , , , , , , |
Format | Journal Article |
Language | English |
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Elsevier Inc
01.08.1998
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Abstract | Carnitine palmitoyltransferase II (CPT II) deficiency, an autosomal recessive disorder of fatty-acid oxidation, presents as three distinct phenotypes (neonatal, infantile, and adult onset). In order to investigate the molecular basis of these three phenotypes, six patients with CPT II deficiency have been studied. All six unrelated patients in this study experienced the clinical symptoms of CPT II deficiency. Three patients had the neonatal form, one had the milder infantile form, and the remaining two had the adult-onset form with “muscular” symptoms only. Their diagnoses were based uponin vitroanalysis of the mitochondrial β-oxidation pathway in fibroblasts and standard enzyme assays. We devised a method to screen the entire coding sequence and flanking splice junction of the CPT II gene. A total of six different mutations have been identified, including four novel mutations. Among them, the previously reported common mutation, S113L, was only found in 3 of 12 variant alleles. Three of the six mutations have been identified in a few unrelated patients, while the remaining three have been found in single families. This study, as well as those by others, indicates genetic heterogeneity in this disease. In addition to tabulating the mutations, the correlation of mutant genotype to clinical phenotype is briefly discussed. |
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AbstractList | Carnitine palmitoyltransferase II (CPT II) deficiency, an autosomal recessive disorder of fatty-acid oxidation, presents as three distinct phenotypes (neonatal, infantile, and adult onset). In order to investigate the molecular basis of these three phenotypes, six patients with CPT II deficiency have been studied. All six unrelated patients in this study experienced the clinical symptoms of CPT II deficiency. Three patients had the neonatal form, one had the milder infantile form, and the remaining two had the adult-onset form with “muscular” symptoms only. Their diagnoses were based uponin vitroanalysis of the mitochondrial β-oxidation pathway in fibroblasts and standard enzyme assays. We devised a method to screen the entire coding sequence and flanking splice junction of the CPT II gene. A total of six different mutations have been identified, including four novel mutations. Among them, the previously reported common mutation, S113L, was only found in 3 of 12 variant alleles. Three of the six mutations have been identified in a few unrelated patients, while the remaining three have been found in single families. This study, as well as those by others, indicates genetic heterogeneity in this disease. In addition to tabulating the mutations, the correlation of mutant genotype to clinical phenotype is briefly discussed. Carnitine palmitoyltransferase II (CPT II) deficiency, an autosomal recessive disorder of fatty-acid oxidation, presents as three distinct phenotypes (neonatal, infantile, and adult onset). In order to investigate the molecular basis of these three phenotypes, six patients with CPT II deficiency have been studied. All six unrelated patients in this study experienced the clinical symptoms of CPT II deficiency. Three patients had the neonatal form, one had the milder infantile form, and the remaining two had the adult-onset form with "muscular" symptoms only. Their diagnoses were based upon in vitro analysis of the mitochondrial beta-oxidation pathway in fibroblasts and standard enzyme assays. We devised a method to screen the entire coding sequence and flanking splice junction of the CPT II gene. A total of six different mutations have been identified, including four novel mutations. Among them, the previously reported common mutation, S113L, was only found in 3 of 12 variant alleles. Three of the six mutations have been identified in a few unrelated patients, while the remaining three have been found in single families. This study, as well as those by others, indicates genetic heterogeneity in this disease. In addition to tabulating the mutations, the correlation of mutant genotype to clinical phenotype is briefly discussed. |
Author | Roe, Charles He, Guocheng Ding, Jia-Huan Roe, Diane Demaugre, France Rabier, Daniel Dewese, Tracy Day, Donald W. Yang, Bing-Zhi Brivet, Michele Wilkinson, Jeff |
Author_xml | – sequence: 1 givenname: Bing-Zhi surname: Yang fullname: Yang, Bing-Zhi organization: Kimberly H. Courtwright & Joseph W. Summers Institute of Metabolic Disease, Baylor University Medical Center, Dallas, Texas, 75226 – sequence: 2 givenname: Jia-Huan surname: Ding fullname: Ding, Jia-Huan organization: Kimberly H. Courtwright & Joseph W. Summers Institute of Metabolic Disease, Baylor University Medical Center, Dallas, Texas, 75226 – sequence: 3 givenname: Tracy surname: Dewese fullname: Dewese, Tracy organization: Kimberly H. Courtwright & Joseph W. Summers Institute of Metabolic Disease, Baylor University Medical Center, Dallas, Texas, 75226 – sequence: 4 givenname: Diane surname: Roe fullname: Roe, Diane organization: Kimberly H. Courtwright & Joseph W. Summers Institute of Metabolic Disease, Baylor University Medical Center, Dallas, Texas, 75226 – sequence: 5 givenname: Guocheng surname: He fullname: He, Guocheng organization: Kimberly H. Courtwright & Joseph W. Summers Institute of Metabolic Disease, Baylor University Medical Center, Dallas, Texas, 75226 – sequence: 6 givenname: Jeff surname: Wilkinson fullname: Wilkinson, Jeff organization: Kimberly H. Courtwright & Joseph W. Summers Institute of Metabolic Disease, Baylor University Medical Center, Dallas, Texas, 75226 – sequence: 7 givenname: Donald W. surname: Day fullname: Day, Donald W. organization: Medical City, Dallas, Texas – sequence: 8 givenname: France surname: Demaugre fullname: Demaugre, France organization: Necker Enfants-Malades, Paris, France – sequence: 9 givenname: Daniel surname: Rabier fullname: Rabier, Daniel organization: Necker Enfants-Malades, Paris, France – sequence: 10 givenname: Michele surname: Brivet fullname: Brivet, Michele organization: Hopital de Bicetre, Paris, France – sequence: 11 givenname: Charles surname: Roe fullname: Roe, Charles organization: Kimberly H. Courtwright & Joseph W. Summers Institute of Metabolic Disease, Baylor University Medical Center, Dallas, Texas, 75226 |
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Cites_doi | 10.1093/hmg/4.1.19 10.1073/pnas.89.18.8429 10.1146/annurev.bi.57.070188.001401 10.1038/ng0793-314 10.1007/BF02185756 10.1016/0005-2760(93)90224-W 10.1002/ajmg.1320250406 10.1016/S0021-9258(18)87005-3 10.1126/science.182.4115.929 10.1007/s004390050170 10.1056/NEJM199112263252607 10.1172/JCI115090 10.1002/dmr.5610050305 10.1006/mgme.1997.2656 10.1016/0014-5793(88)81044-5 |
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Keywords | mitochondrial β-oxidation mutation carnitine palmitoyltransferase II (CPT II) long-chain fatty acids |
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carnitine palmitoyltransferase II deficiency publication-title: Hum Genet doi: 10.1007/s004390050170 contributor: fullname: Yamamoto – volume: 325 start-page: 1862 year: 1991 ident: 10.1006/mgme.1998.2711_GM982711RF7 article-title: Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II publication-title: N Engl J Med doi: 10.1056/NEJM199112263252607 contributor: fullname: Hug – volume: 87 start-page: 859 year: 1991 ident: 10.1006/mgme.1998.2711_GM982711RF6 article-title: Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death publication-title: J Clin Invest doi: 10.1172/JCI115090 contributor: fullname: Demaugre – volume: 5 start-page: 271 year: 1989 ident: 10.1006/mgme.1998.2711_GM982711RF4 article-title: Regulation of ketogenesis and the renaissance of carnitine palmitoyltransferase publication-title: Diabetes Metab Rev doi: 10.1002/dmr.5610050305 contributor: fullname: McGarry – volume: 55 start-page: A245 year: 1994 ident: 10.1006/mgme.1998.2711_GM982711RF13 article-title: Lethal carnitine palmitoyltransferase (CPT) II deficiency in newborns: A molecular genetic study publication-title: Am J Hum Genet contributor: fullname: Taroni – volume: 53 start-page: 110 year: 1998 ident: 10.1006/mgme.1998.2711_GM982711RF19 article-title: A novel mutation identified in carnitine palmitoyltransferase II deficiency publication-title: Mol Genet Metab doi: 10.1006/mgme.1997.2656 contributor: fullname: Yang – volume: 241 start-page: 126 year: 1988 ident: 10.1006/mgme.1998.2711_GM982711RF9 article-title: A case of carnitine palmitoyltransferase II deficiency in human skeletal muscle publication-title: FEBS Lett doi: 10.1016/0014-5793(88)81044-5 contributor: fullname: Singh |
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SubjectTerms | Adult Age of Onset Base Sequence Carnitine O-Palmitoyltransferase - deficiency carnitine palmitoyltransferase II (CPT II) Cells, Cultured DNA - genetics DNA Primers Genotype Humans Infant Infant, Newborn long-chain fatty acids Metabolism, Inborn Errors - enzymology Metabolism, Inborn Errors - genetics Mitochondria - metabolism mitochondrial β-oxidation Mutation Oxidation-Reduction Phenotype |
Title | Identification of Four Novel Mutations in Patients with Carnitine Palmitoyltransferase II (CPT II) Deficiency |
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