Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib
Annals of Laboratory Medicine
;
: 261-266, 2017.
Article
in English
| WPRIM
| ID: wpr-57449
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Glycogen Storage Disease
/
Polymerase Chain Reaction
/
Sequence Deletion
/
Codon, Nonsense
/
Mutation, Missense
/
Diagnosis
/
Alleles
/
Glycogen
/
Methods
Type of study:
Diagnostic study
Limits:
Humans
Language:
English
Journal:
Annals of Laboratory Medicine
Year:
2017
Type:
Article
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