A novel mutation in the NAGLU gene associated with Sanfilippo syndrome type B (mucopolysaccharidosis III B).

Dineshani HettiarachchiNilaksha NethikumaraBamunu Arachchi Pathiranage Sajeewani PathiranaKalum WeththasighaWeerabaddana Dilshani Niluka DissanayakeVajira H W Dissanayake

Published in: Clinical case reports (2018)

Homozygous or compound heterozygous mutation in the gene encoding N-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.

Keyphrases

copy number
genome wide
case report
genome wide identification
mental health
gene expression
early onset
replacement therapy
transcription factor