| Registro completo |
| Provedor de dados: |
Genet. Mol. Biol.
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| País: |
Brazil
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| Título: |
Common N-acetylgalactosamine-6-sulfate sulfatase (GALNS) exon mutations in Brazilian patients with mucopolysaccharidosis IVA (MPS IVA)
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| Autores: |
Dieter,Tatiana
Matte,Ursula da Silveira
Schwartz,Ida Vanessa
Tomatsu,Shunji
Giugliani,Roberto
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| Data: |
2007-01-01
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| Ano: |
2007
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| Palavras-chave: |
GALNS mutations
GALNS mutation detection
Mucopolysaccharidosis IVA
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| Resumo: |
Morquio A Syndrome (mucopolysaccharidosis IVA - MPS IVA, OMIM# 253000) is an autosomal recessive inborn error of metabolism caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS). We investigated five unrelated Brazilian MPS IVA families for mutations in exons 4, 5, 9 and 10 of the GALNS gene. Six out of the 10 mutant alleles were identified. Taken together with a previous study, which included six unrelated families, common mutations among Brazilian patients were p.N164T, p.G116S and p.G301C. Among one hundred control subjects three novel silent mutations were found (p.A107A; GCC -> GCT, p.Y108Y; TAC -> TAT, p.P357P; CCG -> CCA). Screening starting with exons 4, 5, 9, 10 and 11 may be a good strategy for genotyping of Brazilian patients since these exons include 73% of all mutations identified in the current and previous studies.
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| Tipo: |
Info:eu-repo/semantics/other
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| Idioma: |
Inglês
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| Identificador: |
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000400004
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| Editor: |
Sociedade Brasileira de Genética
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| Relação: |
10.1590/S1415-47572007000400004
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| Formato: |
text/html
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| Fonte: |
Genetics and Molecular Biology v.30 n.3 2007
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| Direitos: |
info:eu-repo/semantics/openAccess
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