1. Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations.
- Author
-
Kobayashi K, Bang Lu Y, Xian Li M, Nishi I, Hsiao KJ, Choeh K, Yang Y, Hwu WL, Reichardt JK, Palmieri F, Okano Y, and Saheki T
- Subjects
- Adolescent, Adult, Aged, Calcium-Binding Proteins genetics, Child, Female, Genetic Carrier Screening, Genetic Testing, Humans, Japan, Male, Middle Aged, Mitochondrial Membrane Transport Proteins, Organic Anion Transporters genetics, Polymorphism, Restriction Fragment Length, Asian People genetics, Calcium-Binding Proteins deficiency, Citrullinemia genetics, Membrane Transport Proteins genetics, Mitochondrial Proteins genetics, Mutation genetics, Organic Anion Transporters deficiency
- 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.
- Published
- 2003
- Full Text
- View/download PDF