Identification of compound heterozygous mutations (G188E/W382X) of lipoprotein lipase gene in a Japanese infant with hyperchylomicronemia: the G188E mutation was newly identified in Japanese

Citation
A. Takagi et al., Identification of compound heterozygous mutations (G188E/W382X) of lipoprotein lipase gene in a Japanese infant with hyperchylomicronemia: the G188E mutation was newly identified in Japanese, CLIN CHIM A, 285(1-2), 1999, pp. 143-154
Citations number
17
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Medical Research Diagnosis & Treatment
Journal title
CLINICA CHIMICA ACTA
ISSN journal
0009-8981 → ACNP
Volume
285
Issue
1-2
Year of publication
1999
Pages
143 - 154
Database
ISI
SICI code
0009-8981(199907)285:1-2<143:IOCHM(>2.0.ZU;2-Y
Abstract
We herein report a case of a 5-month-old Japanese female (patient AN) with fasting hyperchylomicronemia due to a primary lipoprotein lipase (LPL) defi ciency. Patient AN was compound heterozygous for a missense mutation (GG(81 8)G-->GAG/Gly(188) -->Glu; G188E) in exon 5 and a nonsense mutation (TGG(14 01)-->TGA/Trp(382) --> Stop; W382X) in exon 8 of the LPL gene. This resulte d in less than 10% of the control levels for both the LPL activity and immu noreactive LPL mass in the postheparin plasma. A G188E mutation was thus id entified for the first time in a Japanese, and the haplotype of this G188E allele was different from that of the G188E alleles identified in other eth nic groups. This additional mutation might be useful for early diagnosis of LPL gene aberrations in Japanese patients with fasting hyperchylomicronemi a. (C) 1999 Elsevier Science B.V. All rights reserved.