Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease lbopen access
- Authors
- Choi, R.[Choi, R.]; Park, H.-D.[Park, H.-D.]; Ko, J.M.[ Ko, J.M.]; Lee, J.[ Lee, J.]; Lee, D.H.[ Lee, D.H.]; Hong, S.J.[ Hong, S.J.]; Ki, C.-S.[Ki, C.-S.]; Lee, S.-Y.[Lee, S.-Y.]; Kim, J.-W.[Kim, J.-W.]; Song, J.[ Song, J.]; Choe, Y.H.[Choe, Y.H.]
- Issue Date
- May-2017
- Publisher
- KOREAN SOC LABORATORY MEDICINE
- Keywords
- Glycogen storage disease; GSD Ib; Korean population; Mutation; SLC37A4
- Citation
- ANNALS OF LABORATORY MEDICINE, v.37, no.3, pp.261 - 266
- Indexed
- SCIE
SCOPUS
KCI
- Journal Title
- ANNALS OF LABORATORY MEDICINE
- Volume
- 37
- Number
- 3
- Start Page
- 261
- End Page
- 266
- URI
- https://scholarworks.bwise.kr/skku/handle/2021.sw.skku/29207
- DOI
- 10.3343/alm.2017.37.3.261
- ISSN
- 2234-3806
- Abstract
- 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.
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Collections - Medicine > Department of Medicine > 1. Journal Articles
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