Abstract |
Carnitine palmitoyltransferase II ( CPT II) deficiency is the most common inherited disorder of lipid metabolism characterized in its adult form by attacks of myalgia and myoglobinuria. We analyzed a cohort of 22 CPT II-deficient patients (representing 20 independent probands) to correlate clinical presentation and molecular data. The common p.Ser113Leu mutation was detected with an allelic frequency of 67.5% (27/40), in association with mild adult-onset phenotype. In addition to the p.Ser113Leu mutation, other 10 disease-causing mutations were identified, 5 of which were novel. They are a micro-insertion within exon 5, three aminoacid substitutions within the coding region, namely p.Arg151Trp, p.Asp576Gly, p.Arg247Trp and a truncating stop codon mutation (p.Arg554Ter). Our data expand the spectrum of CPT II mutations and help to evaluate possible correlations between genotypes and phenotypes.
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Authors | S Corti, A Bordoni, D Ronchi, O Musumeci, M Aguennouz, A Toscano, C Lamperti, N Bresolin, G P Comi |
Journal | Journal of the neurological sciences
(J Neurol Sci)
Vol. 266
Issue 1-2
Pg. 97-103
(Mar 15 2008)
ISSN: 0022-510X [Print] Netherlands |
PMID | 17936304
(Publication Type: Journal Article)
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Chemical References |
- Fatty Acids
- DNA
- Carnitine O-Palmitoyltransferase
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Topics |
- Adolescent
- Adult
- Age of Onset
- Aged
- Alleles
- Amino Acid Sequence
- Amino Acid Substitution
- Carnitine O-Palmitoyltransferase
(deficiency, genetics)
- Child
- Cohort Studies
- DNA
(genetics)
- Exons
(genetics)
- Fatty Acids
(metabolism)
- Female
- Gene Frequency
- Humans
- Lipid Metabolism, Inborn Errors
(genetics)
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
(genetics)
- Myoglobinuria
(etiology)
- Neuromuscular Diseases
(etiology)
- Oxidation-Reduction
- Phenotype
- Reverse Transcriptase Polymerase Chain Reaction
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