A novel mutation in the <scp>NAGLU</scp> gene associated with Sanfilippo syndrome type B (mucopolysaccharidosis <scp>III</scp> B)

Abstract

Homozygous or compound heterozygous mutation in the gene encoding <i>N</i>-alpha-acetylglucosaminidase (NAGLU) on chromosome 17q21 results in Sanfilippo B, resulting in excess accumulation of intralysosomal glycosaminoglycans (mucopolysaccharides) in various tissues. We wish to report a novel homozygous variant in a child with features of Sanfilippo syndrome B.