A Novel de novo Mutation in the G6PD Gene in a Korean Boy with Glucose-6-phosphate Dehydrogenase Deficiency: Case Report

被引：0

作者：

Jang, Mi-Ae ^{[1
]}

Kim, Ji-Yoon ^{[2
]}

Lee, Ki-O ^{[3
]}

Kim, Sun-Hee ^{[1
]}

Koo, Hong Hoe ^{[4
]}

Kim, Hee-Jin ^{[1
,3
]}

机构：

[1] Sungkyunkwan Univ, Sch Med, Dept Lab Med & Genet, Samsung Med Ctr, Seoul 135710, South Korea

[2] Kyungpook Natl Univ, Kyungpook Natl Univ Hosp, Dept Pediat, Sch Med, Taegu, South Korea

[3] Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Samsung Biomed Res Inst, Seoul, South Korea

[4] Sungkyunkwan Univ, Sch Med, Dept Pediat, Samsung Med Ctr, Seoul 135710, South Korea

来源：

ANNALS OF CLINICAL AND LABORATORY SCIENCE | 2015年 / 45卷 / 04期

关键词：

glucose-6-phosphate dehydrogenase deficiency; G6PD; mutation; Korean; NONSPHEROCYTIC HEMOLYTIC-ANEMIA; MISSENSE MUTATION;

D O I：

暂无

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive hemolytic anemia caused by a mutation in the G6PD gene on Xq28. Herein, we describe a Korean boy with G6PD deficiency resulting from a novel mutation in G6PD. A 20-month-old boy with hemolytic anemia was referred for molecular diagnosis. He had no relevant family history. The G6PD activity' was severely decreased at 0.2 U/g Hb (severe deficiency). Direct sequencing analyses on the G6PD gene revealed that he was hemizygous for a novel missense variant, c.1187C>G (p.Pro396Arg), in exon 10 of G6PD. Family study involving his parents revealed the de novo occurrence of the mutation. This is the first report of genetically confirmed G6PD deficiency in Korea.

引用

页码：446 / 448

页数：3

共 11 条

[1]

[Anonymous], 1989, B WORLD HEALTH ORGAN, V67, P601

[2] Gluclose-6-phosphate dehydrogenase deficiency [J].