Ann Lab Med.  2017 May;37(3):261-266. 10.3343/alm.2017.37.3.261.

Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib

• Choi R
• Park HD
• Ko JM
• Lee J
• Lee DH
• Hong SJ
• Ki CS
• Lee SY
• Kim JW
• Song J
• Choe YH

• KMID: 2369752
• DOI: http://doi.org/10.3343/alm.2017.37.3.261

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.

Keyword

Glycogen storage disease; GSD Ib; Korean population; mutation; SLC37A4

MeSH Terms

Alleles
Codon, Nonsense
Diagnosis
Glycogen Storage Disease*
Glycogen*
Humans
Methods
Mutation, Missense
Polymerase Chain Reaction
Sequence Deletion
Codon, Nonsense
Glycogen

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