title: Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations.
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.
authors.affiliation: Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University, Graduate School of Medical and Dental Sciences, 8-35-1 Sakuragaoka, Kagoshima 890-8520, Japan. dodoko12@m.kufm.kagoshima-u.ac.jp
authors.forename: Keiko
authors.initials: K
authors.lastname: Kobayashi
authors.forename: Yao
authors.initials: Y
authors.lastname: Bang Lu
authors.forename: Meng
authors.initials: M
authors.lastname: Xian Li
authors.forename: Ikumi
authors.initials: I
authors.lastname: Nishi
authors.forename: Kwang-Jen
authors.initials: KJ
authors.lastname: Hsiao
authors.forename: Kyuchul
authors.initials: K
authors.lastname: Choeh
authors.forename: Yanling
authors.initials: Y
authors.lastname: Yang
authors.forename: Wuh-Liang
authors.initials: WL
authors.lastname: Hwu
authors.forename: Juergen K V
authors.initials: JK
authors.lastname: Reichardt
authors.forename: Ferdinando
authors.initials: F
authors.lastname: Palmieri
authors.forename: Yoshiyuki
authors.initials: Y
authors.lastname: Okano
authors.forename: Takeyori
authors.initials: T
authors.lastname: Saheki
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics*; D002135:Calcium-Binding Proteins / Q000172:deficiency* / Q000235:genetics; D002648:Child; D020159:Citrullinemia / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D006801:Humans; D007564:Japan; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D008875:Middle Aged; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D027361:Organic Anion Transporters / Q000172:deficiency* / Q000235:genetics; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D002135:Calcium-Binding Proteins; D026901:Membrane Transport Proteins; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins; D027361:Organic Anion Transporters; C119629:SLC25A13 protein, human; C008822:citrin