Gene mutation analysis of glucose-6-phosphate dehydrogenase deficiency

Abstract

Objective To explore the gene mutation types of children with red blood cells glucose-6-phosphate dehydrogenase (G-6-PD) deficiency and their parents, and to analyze the hereditary characteristics of G-6-PD deficiency. Methods From 1 July 2013 to 1 July 2015, a total of 12 children with G-6-PD deficiency clinically diagnosed in Chengdu Women′s & Children′s Central Hospital were chosen as research subjects. Clinical data of these children with G-6-PD deficiency were analyzed. G-6-PD gene mutations of these 12 children and their parents were detected by next generation sequencing (NGS), and the rules of inheritance of G-6-PD deficiency were analyzed. The study was performed in accordance with the World Medical Association Declaration of Helsinki revised in 2013, and informed consents were obtained from guardians of all patients. Results ① A total of 7 types of G-6-PD gene mutations were detected among 12 cases of children with G-6-PD deficiency, including 6 types of single gene mutations and 1 types of compound gene mutation. The single gene mutations in children with G-6-PD deficiency were total of 11 cases. Among them there were 3 cases of c. 1388G>A and c. 487G>A, respectively; and 2 cases of c. 1376G>T; and 1 case of c. 95A>G, c. 871G>A and c. 1024C>T, respectively. The compound gene mutation was 1 case of c. [-8-631G>A; 1388G>A]. ② Mutation genes of 10 cases of children with G-6-PD deficiency were inherited from mothers, including 9 male hemizygotes and 1 female heterozygote (c. 1388G>A). Mutation gene of 1 case of male hemizygote children with G-6-PD deficiency was self gene mutation (c. 1024C>T). One case of c. [-8-631G>A; 1388G>A] gene mutation of a female homozygote compound with 2 mutations which inherited from her mother (c. -8-631G>A) and father (c. 1388G>A), respectively. Conclusions The male hemizygote, female homozygote and female heterozygote with G-6-PD deficiency might be manifested as a severe G-6-PD deficiency. Peripheral blood gene test might provide the basis for prenatal counseling, make a definite diagnosis of G-6-PD deficiency, and prevent of acute hemolytic anemia induced by G-6-PD deficiency. Key words: Glucosephosphate dehydrogenase deficiency; Genetic diseases, X-linked; Next generation sequencing; Genetic testing; Inheritance patterns; Point mutation; Child