Molecular characterization of novel and rare DNA variants in patients with galactosemia
Frontiers in Genetics · 10 authors, 4 centres
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The study identified four novel and four rare nonsynonymous DNA variants, with in silico analyses predicting deleterious and/or destabilizing effects for all eight variants.
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This case series examined five newborns with elevated galactose levels identified via the Greek National newborn screening program. Four variants were novel (p.Phe245Leu in GALT, p.Gly193Glu in GALK1, p.Ile266Leu and p.Ala216Thr in GALE) and four were previously recorded but of uncertain clinical significance. In silico analyses using multiple bioinformatics tools predicted deleterious and/or destabilizing effects for all eight variants, and 3D protein structure analysis showed concordance with functional and stability predictions in most cases. The authors support a pathogenic effect for each variant based on rarity and clinical phenotype.
