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Article

A novel loss-of-function mutation in the GNS gene causes Sanfilippo syndrome type D.

Genetic counseling (Geneva, Switzerland) - 1 Jan 2009

Elçioglu N H, Pawlik B, Colak B, Beck M, Wollnik B

Abstract excerpt

UNLABELLED: A novel loss-of-function mutation in the GNS gene causes Sanfilippo syndrome type D: Mucopolysaccharidosis type IIID (MIM 252940) is the least common form of the four subtypes of Sanfilippo syndrome. It is an autosomal recessive lysosomal disorder caused by a deficiency of the N-acetylglucosamine-6-sulphatase (GlcNAc-6S sulphatase, GNS), a hydrolase, which is one of the enzymes involved in heparan...

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Source

Identifiers

PMID: 19650410

Genes

GNS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A novel loss-of-function mutation in the GNS gene causes Sanfilippo syndrome type D.PMID 19650410Read ↗

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Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene.Semantic proximity Read ↗

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Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutationsSemantic proximity Read ↗

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