A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency

作者：Fukao Toshiyuki^*; Hoan Thi Nguyen; Nhan Thu Nguyen; Dung Chi Vu; Ngoc Thi Bich Can; Anh Thi Van Pham; Khanh Ngoc Nguyen; Kobayashi Hironori; Hasegawa Yuki; Thao Phuong Bui; Niezen Koning Kary E; Wanders Ronald J A; de Koning Tom; Liem Thanh Nguyen; Yamaguchi Seiji; Kondo Naomi

来源：Molecular Genetics and Metabolism, 2010, 100(1): 37-41.

DOI：10.1016/j.ymgme.2010.01.007

• Common mutation
• Vietnamese
• Mitochondrial acetoacetyl-CoA thiolase
• beta-Ketothiolase
• T2 deficiency
• Inborn error of metabolism

Mitochondrial acetoacetyl-CoA thiolase (12) deficiency is an inborn error of metabolism affecting isoleucine catabolism and ketone body utilization. This disorder is clinically characterized by intermittent keto-acidotic episodes with no clinical symptoms between episodes. In general, 12 gene mutations are heterogenous. No common mutations have been identified and more than 70 mutations have been identified in 70 patients with 12 deficiency (including unpublished data). We herein identified a common mutation, R208X, in Vietnamese patients. We identified R208X homozygously in six patients and heterozygously in two patients among eight Vietnamese patients. This R208X mutation was also identified heterozygously in two Dutch patients, however, R208X mutant alleles in the Vietnamese have a different haplotype from that in the Dutch, when analyzed using Msp I and Tag I polymorphisms in the T2 gene. The R208X mutant allele was not so frequent in the Vietnamese since we could not find that mutant allele in 400 healthy Vietnamese controls using the Nla III restriction enzyme assay. DNA diagnosis of 12 deficiency may be applicable to the Vietnamese population.

• 出版日期2010-5