Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease lb

被引:17
作者
Choi, Rihwa [1 ]
Park, Hyung-Doo [1 ]
Ko, Jung Min [2 ]
Lee, Jeongho [3 ]
Lee, Dong Hwan [3 ]
Hong, Suk Jin [4 ]
Ki, Chang-Seok [1 ]
Lee, Soo-Youn [1 ]
Kim, Jong-Won [1 ]
Song, Junghan [5 ]
Choe, Yon Ho [6 ]
机构
[1] Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Lab Med & Genet, 81 Irwon Ro, Seoul 06351, South Korea
[2] Seoul Natl Univ, Coll Med, Childrens Hosp, Dept Pediat, Seoul, South Korea
[3] Soonchunhyang Univ Hosp, Dept Pediat, Seoul, South Korea
[4] Catholic Univ Daegu Sch Med, Dept Pediat, Daegu, South Korea
[5] Seoul Natl Univ, Coll Med, Bundang Hosp, Dept Lab Med, Seongnam, South Korea
[6] Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Pediat, Seoul, South Korea
关键词
Glycogen storage disease; GSD Ib; Korean population; mutation; SLC37A4; GLUCOSE-6-PHOSPHATE TRANSPORTER; IB; 1B; GENE; GUIDELINES; DISORDERS; FREQUENCY; DEFICIENT; DIAGNOSIS;
D O I
10.3343/alm.2017.37.3.261
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
Background: Molecular techniques are fundamental for establishing an accurate diagnosis and therapeutic approach of glycogen storage diseases (GSDs). We aimed to evaluate SLC37A4 mutation spectrum in Korean GSD lb patients. Methods: Nine Korean patients from eight unrelated families with GSD lb were included. SLC37A4 mutations were detected in all patients with direct sequencing using a PCR method and/or whole-exome sequencing. A comprehensive review of previously reported SLC37A4 mutations was also conducted. Results: Nine different pathogenic SLC37A4 mutations were identified in the nine patients with GSD lb. Among them, four novel mutations were identified: c.148G > A (pGly50Arg), c.320G > A (p.Trp107*), c.412T > C (p.Trp138Arg), and c.818G > A (p.Gly273Asp). The most common mutation type was missense mutations (66.7%, 6/9), followed by nonsense mutations (22.2%, 2/9) and small deletion mutations (11.1%, 1/9). The most common mutation identified in the Korean population was c.443C > T (p.A1a148Val), which comprised 39.9% (7/18) of all tested alleles. This mutation has not been reported in GSD lb patients in other ethnic populations. Conclusions: This study expands knowledge of the SLC37A4 mutation spectrum in Korean patients with GSD lb.
引用
收藏
页码:261 / 266
页数:6
相关论文
共 27 条
[1]  
Bali DS., 1993, GENEREVIEWS R
[2]   Structure-function analysis of the glucose-6-phosphate transporter deficient in glycogen storage disease type Ib [J].
Chen, LY ;
Pan, CJ ;
Chou, JY .
HUMAN MOLECULAR GENETICS, 2002, 11 (25) :3199-3207
[3]   Functional analysis of mutations in the glucose-6-phosphate transporter that cause glycogen storage disease type Ib [J].
Chen, Shih-Yin ;
Pan, Chi-Jiunn ;
Lee, Soojung ;
Peng, Wentao ;
Chou, Janice Y. .
MOLECULAR GENETICS AND METABOLISM, 2008, 95 (04) :220-223
[4]   Type I glycogen storage diseases: disorders of the glucose-6-phosphatase/glucose-6-phosphate transporter complexes [J].
Chou, Janice Y. ;
Jun, Hyun Sik ;
Mansfield, Brian C. .
JOURNAL OF INHERITED METABOLIC DISEASE, 2015, 38 (03) :511-519
[5]   Glycogen storage disease type I and G6Pase-β deficiency: etiology and therapy [J].
Chou, Janice Y. ;
Jun, Hyun Sik ;
Mansfield, Brian C. .
NATURE REVIEWS ENDOCRINOLOGY, 2010, 6 (12) :676-688
[6]  
Chou Janice Yang, 2002, Current Molecular Medicine (Hilversum), V2, P121, DOI 10.2174/1566524024605798
[7]   Liver glycogen storage diseases due to phosphorylase system deficiencies: Diagnosis thanks to non invasive blood enzymatic and molecular studies [J].
Davit-Spraul, Anne ;
Piraud, Monique ;
Dobbelaere, Dries ;
Valayannopoulos, Vassili ;
Labrune, Philippe ;
Habes, Dalila ;
Bernard, Olivier ;
Jacquemin, Emmanuel ;
Baussan, Christiane .
MOLECULAR GENETICS AND METABOLISM, 2011, 104 (1-2) :137-143
[8]  
Dissanayake Vajira Hw, 2011, J Mol Genet Med, V5, P262
[9]   The role of human demographic history in determining the distribution and frequency of transferase-deficient galactosaemia mutations [J].
Flanagan, J. M. ;
McMahon, G. ;
Chia, S. H. Brendan ;
Fitzpatrick, P. ;
Tighe, O. ;
O'Neill, C. ;
Briones, P. ;
Gort, L. ;
Kozak, L. ;
Magee, A. ;
Naughten, E. ;
Radomyska, B. ;
Schwartz, M. ;
Shin, J. S. ;
Strobl, W. M. ;
Tyfield, L. A. ;
Waterham, H. R. ;
Russell, H. ;
Bertorelle, G. ;
Reichardt, J. K. V. ;
Mayne, P. D. ;
Croke, D. T. .
HEREDITY, 2010, 104 (02) :148-154
[10]   A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b [J].
Han, SH ;
Ki, CS ;
Lee, JE ;
Hong, YJ ;
Son, BK ;
Lee, KH ;
Choe, YH ;
Lee, SY ;
Kim, JW .
JOURNAL OF KOREAN MEDICAL SCIENCE, 2005, 20 (03) :499-501