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

Abstract

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

• clinical exome sequencing
• glycosaminoglycans
• Mucopolysaccharidosis VII
• prenatal diagnosis
• Sly syndrome
• β‐glucuronidase