Yen Hui ChiuYing Chen ChangYu Hsin ChangDau Ming NiuYan Ling YangJun YeJianhui JiangYoshiyuki OkanoDong Hwan LeeSuthipong PangkanonChulaluck KuptanonNgu Lock HockMary Anne ChiongBarbra V. CavanKwang Jen HsiaoTze Tze LiuNational Yang-Ming University TaiwanTaipei City Hospital TaiwanVeterans General Hospital-TaipeiPeking UniversityShanghai Jiao Tong UniversityGuangzhou Maternal and Neonatal HospitalOsaka City UniversitySoonchunhyang University, College of MedicineRangsit UniversityMahidol UniversityKuala Lumpur HospitalUniversity of the Philippines ManilaChildren's Clinic and Human Genetics Information Resource CenterPreventive Medicine FoundationChang Gung Medical Foundation2018-06-112018-06-112012-02-01Journal of Human Genetics. Vol.57, No.2 (2012), 145-1521435232X143451612-s2.0-84863229713https://repository.li.mahidol.ac.th/handle/20.500.14594/13820The enzyme 6-pyruvoyl-tetrahydropterin synthase (PTPS, gene symbol: PTS) is involved in the second step of the de novo biosynthesis of tetrahydrobiopterin (BH4), which is a vital cofactor of nitric oxide synthases and three types of aromatic amino acid hydroxylases; the latter are important enzymes in the production of neurotransmitters. We conducted a study of PTS mutations in East Asia, including Taiwan, Mainland China, Japan, South Korea, the Philippines, Thailand and Malaysia. A total of 43 mutations were identified, comprising 22 previously reported mutations and 21 new discovered mutations. Among these, the c.155A > G, c.259C > T, c. 272A > G, c.286G > A and c.84-291A > G mutations were the most common PTS mutations in East Asia, while the c.58T > C and c.243G > A mutations were, respectively, specific to Filipinos and Japanese originating from Okinawa. Further studies demonstrated that each of the mutations listed above was in linkage disequilibrium to a specific allele of polymorphic microsatellite marker, D11S1347. These results suggest the presence of founder effects that have affected these frequent mutations in East Asia populations. In this context, D11S1347 should become one of the most reliable polymorphic markers for use in prenatal diagnosis among PTPS deficient families, especially where mutations are yet to be identified. © 2012 The Japan Society of Human Genetics All rights reserved.Mahidol UniversityBiochemistry, Genetics and Molecular BiologyMedicineArticleSCOPUS10.1038/jhg.2011.146