Prediction of functional consequences of the five newly discovered G6PD variations in Taiwan
Yen-Hui Chiu,
Yu-Ning Liu,
Hsiao-Jan Chen,
Ying-Chen Chang,
Shu-Min Kao,
Mei-Ying Liu,
Ying-Yen Weng,
Kwang-Jen Hsiao,
Tze-Tze Liu
Affiliations
Yen-Hui Chiu
Department of Education and Research, Taipei City Hospital, Taipei, Taiwan; Department of Biotechnology and Pharmaceutical Technology, Yuanpei University of Medical Technology, Hsinchu, Taiwan
Yu-Ning Liu
Department of Education and Research, Taipei City Hospital, Taipei, Taiwan
Hsiao-Jan Chen
Neonatal Screening Center, The Chinese Foundation of Health, Taipei, Taiwan
Ying-Chen Chang
Cancer Progression Research Center, National Yang-Ming University, Taipei, Taiwan
Shu-Min Kao
Neonatal Screening Center, The Chinese Foundation of Health, Taipei, Taiwan
Mei-Ying Liu
Neonatal Screening Center, The Chinese Foundation of Health, Taipei, Taiwan
Ying-Yen Weng
Cancer Progression Research Center, National Yang-Ming University, Taipei, Taiwan
Kwang-Jen Hsiao
Department of Education and Research, Taipei City Hospital, Taipei, Taiwan; Preventive Medicine Foundation, Taipei, Taiwan; Corresponding author. Preventive Medicine Foundation, Taipei P.O. Box 26-553, Taipei 10699, Taiwan
Tze-Tze Liu
Department of Education and Research, Taipei City Hospital, Taipei, Taiwan; Cancer Progression Research Center, National Yang-Ming University, Taipei, Taiwan; Corresponding author. Cancer Progression Research Center, National Yang-Ming University, No.155, Sec. 2, Li-Nong Street, Taipei 11221, Taiwan.
Glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency; OMIM #300908) is the most common inborn error disorders worldwide. While the G6PD is the key enzyme of removing oxidative stress in erythrocytes, the early diagnosis is utmost vital to prevent chronic and drug-, food- or infection-induced hemolytic anemia. The characterization of the mutations is also important for the subsequent genetic counseling, especially for female carrier with ambiguous enzyme activities and males with mild mutations. While multiplex SNaPshot assay and Sanger sequencing were performed on 500 G6PD deficient males, five newly discovered variations, namely c.187G > A (p.E63K), c.585G > C (p.Q195H), c.586A > T (p.I196F), c.743G > A (p.G248D), and c.1330G > A (p.V444I) were detected in the other six patients. These variants were previously named as the Pingtung, Tainan, Changhua, Chiayi, and Tainan-2 variants, respectively. The in silico analysis, as well as the prediction of the structure of the resultant mutant G6PD protein indicated that these five newly discovered variants might be disease causing mutations. Keywords: G6PD deficiency, Mutation analysis, In silico analysis, Structural predication
