| Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB). | |
| | |
MedLine Citation:
|
PMID: 9832037 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Sanfilippo syndrome type B or mucopolysaccharidosis type IIIB (MPS IIIB) is one of a group of lysosomal storage disorders that are characterised by the inability to breakdown heparan sulphate. In MPS IIIB, there is a deficiency in the enzyme alpha-N-acetylglucosaminidase (NAGLU) and early clinical symptoms include aggressive behaviour and hyperactivity followed by progressive mental retardation. The disease is autosomal recessive and the gene for NAGLU, which is situated on chromosome 17q21, is approximately 8.5 kb in length and contains six exons. Primers were designed to amplify the entire coding region and intron/exon boundaries of the NAGLU gene in 10 fragments. The PCR products were analysed for sequence changes using SSCP analysis and fluorescent DNA sequencing technology. Sixteen different putative mutations were detected in DNA from 14 MPS IIIB patients, 12 of which have not been found previously. The mutations include four deletions (219-237del19, 334-358del25, 1335delC, 2099delA), two insertions (1447-1448insT, 1932-1933insGCTAC), two nonsense mutations (R297X, R626X), and eight missense mutations (F48C, Y140C, R234C, W268R, P521L, R565W, L591P, E705K). In this study, the Y140C, R297X, and R626X mutations were all found in more than one patient and together accounted for 25% of mutant alleles. |
| | |
Authors:
|
C E Beesley; E P Young; A Vellodi; B G Winchester |
Related Documents
:
|
21615967 - Systems mapping: how to improve the genetic mapping of complex traits through design pr... 21567017 - Genetic stability of microsatellites in human neuroblastomas. 22194627 - Cold-pcr enrichment of rare cancer mutations prior to targeted amplicon resequencing. 17467977 - Gain-of-glycosylation mutations. 7343417 - Doubled haploids for studying the inheritance of quantitative characters. 23319877 - Association between abcb1 polymorphisms and ischemic stroke in korean population. |
Publication Detail:
|
Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
|
Title: Journal of medical genetics Volume: 35 ISSN: 0022-2593 ISO Abbreviation: J. Med. Genet. Publication Date: 1998 Nov |
Date Detail:
|
Created Date: 1999-02-04 Completed Date: 1999-02-04 Revised Date: 2009-11-18 |
Medline Journal Info:
|
Nlm Unique ID: 2985087R Medline TA: J Med Genet Country: ENGLAND |
Other Details:
|
Languages: eng Pagination: 910-4 Citation Subset: IM |
Affiliation:
|
Biochemistry, Endocrinology, and Metabolism Unit, Institute of Child Health, London, UK. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Acetylglucosaminidase
/
genetics* DNA Mutational Analysis Humans Mucopolysaccharidosis III / enzymology*, genetics Mutation* |
| Grant Support | |
ID/Acronym/Agency:
|
//Wellcome Trust |
| Chemical | |
Reg. No./Substance:
|
EC 3.2.1.50/alpha-N-acetyl-D-glucosaminidase; EC 3.2.1.52/Acetylglucosaminidase |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27.
Next Document: Identification of five novel germline mutations of the MEN1 gene in Japanese multiple endocrine neop...