Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency.
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.
Corti
S
S
Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS, Foundation Ospedale Maggiore Policlinico Mangiagalli and Regina Elena, Milan, Italy.
Bordoni
A
A
Ronchi
D
D
Musumeci
O
O
Aguennouz
M
M
Toscano
A
A
Lamperti
C
C
Bresolin
N
N
Comi
G P
GP
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000483:Alleles; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency* / Q000235:genetics*; D002648:Child; D015331:Cohort Studies; D004247:DNA / Q000235:genetics; D005091:Exons / Q000235:genetics; D005227:Fatty Acids / Q000378:metabolism; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D009212:Myoglobinuria / Q000209:etiology; D009468:Neuromuscular Diseases / Q000209:etiology; D010084:Oxidation-Reduction; D010641:Phenotype; D020133:Reverse Transcriptase Polymerase Chain Reaction
D005227:Fatty Acids; D004247:DNA; D002334:Carnitine O-Palmitoyltransferase