Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype.

ABSTRACT:

Background

A new disease class of syndromes, described as linkeropathies, which are derived from defects in the glycosaminoglycan-linker region as well as glycosaminoglycan-side chains of proteoglycans is increasingly being recognized as a cause of human disease. Proteoglycans are an essential component of the extracellular matrix. Defects in the enzymatic process of proteoglycan synthesis broadly occur due to the incorrect addition of side chains. Previously, homozygous missense variants within the B3GAT3 gene encoding beta 1,3 glucuronyltransferase 3(GlcAT-I) responsible for the biosynthesis of glycosaminoglycans have been described in 7 individuals.

Case presentation

In this study, a 4-year-old patient with a severe phenotype of osteoporosis, hypotonia, joint laxity, frac

SUBMITTER: Job F 

PROVIDER: S-EPMC5117547 | biostudies-literature | 2016 Nov

REPOSITORIES: biostudies-literature