Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations

Mol Genet Metab. 2003 Nov;80(3):356-9. doi: 10.1016/S1096-7192(03)00140-9.

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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Asian People / genetics*
  • Calcium-Binding Proteins / deficiency*
  • Calcium-Binding Proteins / genetics
  • Child
  • Citrullinemia / genetics*
  • Female
  • Genetic Carrier Screening
  • Genetic Testing
  • Humans
  • Japan
  • Male
  • Membrane Transport Proteins / genetics*
  • Middle Aged
  • Mitochondrial Membrane Transport Proteins
  • Mitochondrial Proteins / genetics*
  • Mutation / genetics*
  • Organic Anion Transporters / deficiency*
  • Organic Anion Transporters / genetics
  • Polymorphism, Restriction Fragment Length

Substances

  • Calcium-Binding Proteins
  • Membrane Transport Proteins
  • Mitochondrial Membrane Transport Proteins
  • Mitochondrial Proteins
  • Organic Anion Transporters
  • SLC25A13 protein, human
  • citrin