Identification of the infant-type R631C mutation in patients with the benign muscular form of CPT2 deficiency.
Carnitine palmitoyltransferase 2 (CPT2) deficiency is the most common defect of mitochondrial fatty acid oxidation; three different clinical phenotypes have been described but the adult form, involving exclusively the skeletal muscle, is the most frequent. We describe herein 3 families where 4 individuals manifested with the adult form of CPT2 deficiency. CPT2 gene molecular analysis identified the homozygous R631C mutation, so far only reported in severe infantile cases. Our data evidenced that R631C mutation is not exclusively detected in the infantile form but it may be present in a wider spectrum of CPT2 phenotypes. These findings indirectly suggest that other modulators may influence clinical severity of CPT2 deficiency.
Musumeci
Olimpia
O
Department of Neurosciences, Psychiatry and Anaesthesiology, University of Messina, Italy.
Aguennouz
Mohammed
M
Comi
Giacomo Pietro
GP
Rodolico
Carmelo
C
Autunno
Massimo
M
Bordoni
Andreina
A
Baratta
Silvia
S
Taroni
Franco
F
Vita
Giuseppe
G
Toscano
Antonio
A
D000293:Adolescent; D000328:Adult; D001706:Biopsy; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency* / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D052439:Lipid Metabolism Disorders / Q000235:genetics* / Q000378:metabolism* / Q000503:physiopathology; D008297:Male; D028361:Mitochondrial Diseases / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D009135:Muscular Diseases / Q000235:genetics* / Q000378:metabolism* / Q000503:physiopathology; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D010641:Phenotype
D005819:Genetic Markers; D002334:Carnitine O-Palmitoyltransferase