Two novel gene mutations (Glu174→Lys,Phe383→Tyr) causing the “hepatic” form of carnitine palmitoyltransferase II deficiency |
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| Authors: | S Yamamoto Hiroki Abe Toshiaki Kohgo Atushi Ogawa Akira Ohtake Hidemasa Hayashibe Hitoshi Sakuraba Yoshiyuki Suzuki Shuichi Aramaki Masaki Takayanagi Shuji Hasegawa Hiroo Niimi |
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| Institution: | (1) Department of Pediatrics, Chiba University School of Medicine, 1-8-1 Inohana, Chuo-ku, Chiba, 260 Japan Fax: +81-43-226-2145, JP;(2) Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan, JP;(3) Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Japan, JP;(4) Division of Metabolism, Chiba Children’s Hospital, Chiba, Japan, JP;(5) Chiba City Institute of Health and Environment, Chiba, Japan, JP |
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| Abstract: | 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.
Received: 16 October 1995 |
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