Repositório Científico do Instituto Nacional de Saúde >
Departamento de Genética Humana >
DGH - Posters/abstracts em congressos internacionais >

Please use this identifier to cite or link to this item: http://hdl.handle.net/10400.18/705

Title: Arylsulfatase B mutations in Portuguese MPS VI patients
Authors: Amaral, Olga
Dias, Aureliano
Pinto, Eugénia
Ribeiro, Isaura
Sá Miranda, M.C.
Keywords: Genética Humana
Doenças Genéticas
Issue Date: 2004
Publisher: Instituto Nacional de Saúde Doutor Ricardo Jorge, IP
Abstract: Mucopolysaccharidosis type VI (MPS VI, OMIM 253200) is a rare autosomal recessive disorder characterized by the deficient activity of arylsulfatase B (ARSB, EC 3.1.6.12). In Portugal, the birth prevalence of the rare MPS VI is 0.42/100000. With the emerging availability of promising enzyme replacement therapy for this disease, mutation analysis becomes an important tool not only for the genetic counselling of individuals at risk, but also in the prognosis of the disease and identification of cases which might benefit of an early therapeutic intervention. In this work we present the preliminary results obtained through mutation analysis of 12 Portuguese patients. This study involved PCR amplification and direct automated sequencing analysis of exons and intron boundaries. The identification of seven mutations is reported: two recently described deletions, three missense mutations (two of them new), one novel nonsense mutation and also one new splicing mutation. Additionally, two previously described point mutations were detected in the form of a complex allele. Seven patients were homozygous for various mutations, while the remaining five were compound heterozygotes. Interestingly, three mutations seem to have an increased frequency in the Portuguese sample studied jointly c.1533del23 (Petry et al.,2003), c.427delG (Karageorgos et al.,2004) and R315Q (Villani et al.,1999) represent 58% of the patients alleles. In some of the cases Western blot analysis was also carried out. The impact of the various mutations at the protein level and the resulting phenotypic implications are discussed.
Description: IGMJM, Unidade de Enzimologia- Porto and IBMC, Unilipe- Universidade do Porto
Resumo disponível em: J Inherit Metab Dis. 2004;27 Supl 1:184 (363P)
Peer Reviewed: yes
URI: http://hdl.handle.net/10400.18/705
Appears in Collections:DGH - Posters/abstracts em congressos internacionais

Files in This Item:

File Description SizeFormat
Diapositivo1.JPG991.07 kBJPEGThumbnail
View/Open
Restrict Access. You can request a copy!
Statistics
FacebookTwitterDeliciousLinkedInDiggGoogle BookmarksMySpaceOrkut
Formato BibTex mendeley Endnote Logotipo do DeGóis 

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

 

  © 2010 www.insa.pt - Todos os direitos reservados | Feedback Ministério da Saúde

Estamos no RCAAP Governo Português separator Ministério da Educação e Ciência   Fundação para a Ciência e a Tecnologia

Financiado por:

POS_C UE