PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations

被引:14
作者
Choi, Rihwa [1 ]
Park, Hyung-Doo [1 ]
Kang, Ben [2 ]
Choi, So Yoon [2 ]
Ki, Chang-Seok [1 ]
Lee, Soo-Youn [1 ]
Kim, Jong-Won [1 ]
Song, Junghan [3 ]
Choe, Yon Ho [2 ]
机构
[1] Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Lab Med & Genet, 81 Irwon Ro, Seoul 135710, South Korea
[2] Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Pediat, Seoul, South Korea
[3] Seoul Natl Univ, Bundang Hosp, Coll Med, Dept Lab Med, Songnam, South Korea
来源
BMC MEDICAL GENETICS | 2016年 / 17卷
关键词
Glycogen storage disease; Hepatomegaly; Inherited metabolic diseases; Korean; PHKA2; PHOSPHORYLASE-KINASE DEFICIENCY; ALPHA-SUBUNIT; GENE; HYPOGLYCEMIA; PHENOTYPE; DIAGNOSIS; CIRRHOSIS; CHILDREN; CARRIER;
D O I
10.1186/s12881-016-0295-1
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Background: Molecular diagnosis of glycogen storage diseases (GSDs) is important to enable accurate diagnoses and make appropriate therapeutic plans. The aim of this study was to evaluate the PHKA2 mutation spectrum in Korean patients with GSD type IX. Methods: Thirteen Korean patients were tested for PHKA2 mutations using direct sequencing and a multiplex polymerase chain reaction method. A comprehensive review of the literature on previously reported PHKA2 mutations in other ethnic populations was conducted for comparison. Results: Among 13 patients tested, six unrelated male patients with GSD IX aged 2 to 6 years at the first diagnostic work-up for hepatomegaly with elevated aspartate transaminase (AST) and alanine transaminase (ALT) were found to have PHKA2 mutations. These patients had different PHKA2 mutations: five were known mutations (c.537 + 5G > A, c.884G > A [p.Arg295His], c.3210_3212delGAG [p.Arg1072del], exon 8 deletion, and exons 27-33 deletion) and one was a novel mutation (exons 18-33 deletion). Notably, the most common type of mutation was gross deletion, in contrast to other ethnic populations in which the most common mutation type was sequence variant. Conclusions: This study expands our knowledge of the PHKA2 mutation spectrum of GSD IX. Considering the PHKA2 mutation spectrum in Korean patients with GSD IX, molecular diagnostic methods for deletions should be conducted in conjunction with direct sequence analysis to enable accurate molecular diagnosis of this disease in the Korean population.
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页数:9
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