1999
DOI: 10.1038/sj.ejhg.5200242
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Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes

Abstract: Sanfilippo B syndrome (mucopolysaccharidosis IIIB, MPS IIIB) is caused by a deficiency ofα-N-acetylglucosaminidase, a lysosomal enzyme involved in the degradation of heparan sulphate. Accumulation of the substrate in lysosomes leads to degeneration of the central nervous system with progressive dementia often combined with hyperactivity and aggressive behaviour. Age of onset and rate of progression vary considerably, whilst diagnosis is often delayed due to the absence of the pronounced skeletal changes observ… Show more

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Cited by 99 publications
(92 citation statements)
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“…The mutations R482W, R565W, R565P, and delTG2171-2172 have been reported previously (Weber et al 1999;Bunge et al 1999;Coll et al 2001) in patients from other ethnic groups with severe phenotypes of type B. The mutations R482W and R565W were caused by a C-to-T transi- tion at a CpG hot spot.…”
Section: Discussionmentioning
confidence: 99%
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“…The mutations R482W, R565W, R565P, and delTG2171-2172 have been reported previously (Weber et al 1999;Bunge et al 1999;Coll et al 2001) in patients from other ethnic groups with severe phenotypes of type B. The mutations R482W and R565W were caused by a C-to-T transi- tion at a CpG hot spot.…”
Section: Discussionmentioning
confidence: 99%
“…R482W has been reported in a Turkish patient with the severe phenotype as a homozygote (Bunge et al 1999). Weber et al (1999) reported that R565W accounted for 6% of mutant alleles in Australian patients with Sanfilippo type B. Each of R565P and delTG2171-2172 has been found in 1 allele of 50 mutant alleles among Australian patients (Weber et al 1999).…”
Section: Discussionmentioning
confidence: 99%
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“…The disease course in patient B closely resembles the clinical history of these brothers, and we can therefore conclude that the UCBT in this patient was ineffective. Mutations and mutation combinations conveying an attenuated phenotype have been reported frequently in MPS IIIB (Weber et al 1999;Valstar et al 2010a) and, though more rare, also occur in MPS IIIA (Meyer et al 2008;Valstar et al 2010b).…”
Section: Discussionmentioning
confidence: 99%