| Abstrakt: |
A recent study conducted at Federal University in Vitoria, Brazil, has revealed new findings on neonatal disease. The study focused on congenital disorders of glycosylation (CDG), which are characterized by genetic and clinical heterogeneity and are usually inherited in an autosomal recessive manner. The researchers identified a family with two siblings who had compound heterozygous variants in the PIGN gene, specifically the (c.776T > C) variant of uncertain significance (VUS) and a known pathogenic variant (c.932T > G). This is the first reported instance of the c.776T > C variant in individuals with PIGN-congenital disorder of glycosylation (PIGN-CDG). The researchers propose naming this disorder Bella-Noah Syndrome in honor of the family. [Extracted from the article] |
