Screening of nine SLC25A13 mutations: Their frequency in patients with citrin deficiency and high carrier rates in Asian populations
Journal
Molecular Genetics and Metabolism
Journal Volume
80
Journal Issue
3
Pages
356-359
Date Issued
2003
Author(s)
Kobayashi K.
Lu Y.B.
Li M.X.
Nishi I.
Hsiao K.-J.
Choeh K.
Yang Y.
Reichardt J.K.V.
Palmieri F.
Okano Y.
Saheki T.
Abstract
Deficiency of citrin encoded by SLC25A13 causes adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD). So far we have diagnosed 126 (3) CTLN2 and 103 (4) NICCD patients in Japan (and other countries). From preliminary population analysis of the known nine SLC25A13 mutations, we found that the carrier frequency is high in China (1/79), Taiwan (1/98), and Korea (1/50) as well as Japan (1/69), suggesting that many patients with citrin deficiency exist in East Asia. ? 2003 Elsevier Inc. All rights reserved.
Subjects
Adult-onset type II citrullinemia; Argininosuccinate synthetase; Aspartate glutamate carrier; Cholestatic jaundice; Citrin; Malate aspartate shuttle; Mitochondrial solute carrier; Neonatal hepatitis; SLC25A13; Urea cycle
SDGs
Other Subjects
citrulline; article; China; citrullinemia; controlled study; female; gene frequency; gene mutation; genetic epidemiology; genetic screening; genetic susceptibility; heterozygote detection; human; Japan; Korea; major clinical study; male; mutational analysis; mutator gene; newborn hepatitis; population research; priority journal; Taiwan
Publisher
Academic Press Inc.
Type
journal article