Prenatal mucopolysaccharidosis VII: A novel pathogenic variant identified in GUSB gene

Abstract

Clinical exome sequencing is a powerful approach to overcome the wide clinical and genetic heterogeneity of mucopolysaccharidosis. These data could be useful for prenatal diagnosis of MPS VII, genetic counseling, and preimplantation genetic testing.

Keywords: Mucopolysaccharidosis VII; Sly syndrome; clinical exome sequencing; glycosaminoglycans; prenatal diagnosis; β‐glucuronidase.