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

Dineshani Hettiarachchi; Nilaksha Nethikumara; Bamunu Arachchi Pathiranage Sajeewani Pathirana; Kalum Weththasigha; Weerabaddana Dilshani Niluka Dissanayake; Vajira H W Dissanayake

doi:10.1002/ccr3.1521

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

Clin Case Rep. 2018 Apr 14;6(6):1051-1054. doi: 10.1002/ccr3.1521. eCollection 2018 Jun.

Authors

Dineshani Hettiarachchi¹, Nilaksha Nethikumara¹, Bamunu Arachchi Pathiranage Sajeewani Pathirana¹, Kalum Weththasigha¹, Weerabaddana Dilshani Niluka Dissanayake², Vajira H W Dissanayake¹

Affiliations

¹ Human Genetics Unit Faculty of Medicine University of Colombo Colombo Sri Lanka.
² Sirimawo Bandaranayaka Specialised Children's Hospital Peradeniya Sri Lanka.

Abstract

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.

Keywords: Lysosomal storage disease; N‐alpha‐acetylglucosaminidase; Sanfilippo syndrome; mucopolysaccharidosis; novel mutation.

Publication types

Case Reports