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- Title
Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib.
- Authors
Rihwa Choi; Hyung-Doo Park; Jung Min Ko; Jeongho Lee; Dong Hwan Lee; Suk Jin Hong; Chang-Seok Ki; Soo-Youn Lee; Jong-Won Kim; Junghan Song; Yon Ho Choe
- 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 Ib patients. Methods: Nine Korean patients from eight unrelated families with GSD Ib 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 Ib. 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.Ala148Val), which comprised 39.9% (7/18) of all tested alleles. This mutation has not been reported in GSD Ib patients in other ethnic populations. Conclusions: This study expands knowledge of the SLC37A4 mutation spectrum in Korean patients with GSD Ib.
- Subjects
SOUTH Korea; GLYCOGEN storage disease; PUBLIC health; GENETIC mutation; GLUCOSE 6-phosphatase; POLYMERASE chain reaction
- Publication
Annals of Laboratory Medicine, 2017, Vol 37, Issue 3, p261
- ISSN
2234-3806
- Publication type
Article
- DOI
10.3343/alm.2017.37.3.261