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Novel variants in Turkish patients with glycogen storage disease
Author(s) -
Çakar Nafiye Emel,
Gezdirici Alper,
Topuz Hanım Şeyma,
Önal Hasan
Publication year - 2020
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/ped.14286
Subject(s) - medicine , glycogen storage disease , gene , gastroenterology , sibling , disease , genetics , biology , psychology , developmental psychology
Background Glycogen storage diseases (GSD) are disorders of autosomal recessive carbohydrate metabolism, characterized by glycogen accumulation. The liver and muscle tissue are commonly affected but patients may present with different clinical manifestations. The presence of glycogen can be demonstrated in biopsies and definitive diagnosis can be made by enzymatic or molecular analysis. The aim of this study was to determine specific gene mutations in our cases with GSD. Methods Thirty‐eight patients with clinical and laboratory diagnoses of GSD were studied. Thirty‐two patients had undergone genetic analysis. In our study, a next‐generation sequencing panel was used. Results Five novel variants of uncertain significance (VUS), which were likely to be pathogenic, were detected in seven patients. Two new pathogenic variations of c.927delT (p.Phe309LeufsTer4) homozygous and c.44C>G (p.Ser15Ter) homozygous in the G6PC gene were detected in two GSD type Ia patients. In our two non‐sibling GSD type III patients, c.1439T>G (p.Leu480Arg) homozygous novel‐VUS was detected in the AGL gene. In our GSD type IV patient, c.1054G>C (p.Asp352His) homozygous novel‐VUS was detected in the GBE1 gene. In GSD type VI, two sibling patients had a c.1454A>G (p.Asn485Ser) homozygous novel‐VUS change in the PYGL gene. Conclusions We determined the gene mutations specific to cohorts in our cases with GSD. The novel pathogenic, likely pathogenic, and VUS changes identified will contribute to the relationship between the patients’ clinical and laboratory findings.