Two novel gene mutations (Glu174-->Lys, Phe383-->Tyr) causing the "hepatic" form of carnitine palmitoyltransferase II deficiency.
Carnitine palmitoyltransferase II (CPT II) deficiency has two different clinical forms, one with "hepatic" and the other with "muscular" symptoms. We studied the molecular basis of the "hepatic" form in two Japanese siblings. Their CPT II activity in lymphoblasts was reduced to 3% of the level observed in normal controls. cDNA analysis showed that the proband was a compound heterozygote. One allele carried a new mutation, G621-->A (Glu174-->Lys). The other carried three single-base substitutions; a new mutation, T1249-->A (Phe383-->Tyr), and two previously reported polymorphisms. The brother had the same four substitutions. Neither of the two new mutations in this study was detected in the 60 alleles of 30 Japanese control subjects. Secondary structure prediction analysis of the mutated CPT II protein was different from that of the normal protein. We concluded that these mutations caused the "hepatic" form of CPT II deficiency in the probands.
Yamamoto
S
S
Department of pediatrics, Chiba University School of Medicine, Japan.
Abe
H
H
Kohgo
T
T
Ogawa
A
A
Ohtake
A
A
Hayashibe
H
H
Sakuraba
H
H
Suzuki
Y
Y
Aramaki
S
S
Takayanagi
M
M
Hasegawa
S
S
Niimi
H
H
D000483:Alleles; D002334:Carnitine O-Palmitoyltransferase / Q000737:chemistry / Q000172:deficiency* / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008107:Liver Diseases / Q000235:genetics*; D008297:Male; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D017433:Protein Structure, Secondary
D002334:Carnitine O-Palmitoyltransferase