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

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.

SUBMITTER: Hettiarachchi D

PROVIDER: S-EPMC5986016 | biostudies-other | 2018 Jun

REPOSITORIES: biostudies-other

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

Hettiarachchi Dineshani D Nethikumara Nilaksha N Pathirana Bamunu Arachchi Pathiranage Sajeewani BAPS Weththasigha Kalum K Dissanayake Weerabaddana Dilshani Niluka WDN Dissanayake Vajira H W VHW

Clinical case reports 20180414 6

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. ...[more]

PMID: 29881562

Dataset Information

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

Publications

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

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