Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib.
10.3343/alm.2017.37.3.261
- Author:
Rihwa CHOI
1
;
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
Author Information
1. Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. nayadoo@hanmail.net
- Publication Type:Original Article
- Keywords:
Glycogen storage disease;
GSD Ib;
Korean population;
mutation;
SLC37A4
- MeSH:
Alleles;
Codon, Nonsense;
Diagnosis;
Glycogen Storage Disease*;
Glycogen*;
Humans;
Methods;
Mutation, Missense;
Polymerase Chain Reaction;
Sequence Deletion
- From:Annals of Laboratory Medicine
2017;37(3):261-266
- CountryRepublic of Korea
- Language:English
-
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.
