Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations.
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.
Kobayashi
Keiko
K
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
Bang Lu
Yao
Y
Xian Li
Meng
M
Nishi
Ikumi
I
Hsiao
Kwang-Jen
KJ
Choeh
Kyuchul
K
Yang
Yanling
Y
Hwu
Wuh-Liang
WL
Reichardt
Juergen K V
JK
Palmieri
Ferdinando
F
Okano
Yoshiyuki
Y
Saheki
Takeyori
T
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
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