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Publication year
2010Author(s)
Source
Human Mutation, 31, 5, (2010), pp. E1348-60ISSN
Annotation
01 mei 2010
Publication type
Article / Letter to editor
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Organization
Paediatrics - OUD tm 2017
Laboratory of Genetic, Endocrine and Metabolic Diseases
Neurology
Human Genetics
Journal title
Human Mutation
Volume
vol. 31
Issue
iss. 5
Page start
p. E1348
Page end
p. 60
Subject
DCN 2: Functional Neurogenomics; DCN 3: Neuroinformatics; IGMD 4: Glycostation disordersAbstract
Mucopolysaccharidosis III D (Sanfilippo disease type D, MPS IIID) is a rare autosomal recessive lysosomal storage disorder previously described in only 20 patients. MPS IIID is caused by a deficiency of N-acetylglucosamine-6-sulphate sulphatase (GNS), one of the enzymes required for the degradation of heparan sulphate. So far only seven mutations in the GNS gene have been reported. The clinical phenotype of 12 new MPS IIID patients from 10 families was studied. Mutation analysis of GNS was performed in 16 patients (14 index cases). Clinical signs and symptoms of the MPS IIID patients appeared to be similar to previously described patients with MPS III. Early development was normal with onset of behavioral problems around the age of 4 years, followed by developmental stagnation, deterioration of verbal communication and subsequent deterioration of motor functions. Sequence analysis of the coding regions of the gene encoding GNS (GNS) resulted in the identification of 15 novel mutations: 3 missense mutations, 1 nonsense mutation, 4 splice site mutations, 3 frame shift mutations, 3 large deletions and 1 in-frame small deletion. They include the first missense mutations and a relatively high proportion of large rearrangements, which warrants the inclusion of quantitative techniques in routine mutation screening of the GNS gene.
This item appears in the following Collection(s)
- Academic publications [238441]
- Electronic publications [122537]
- Faculty of Medical Sciences [90373]
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