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Common N-acetylgalactosamine-6-sulfate sulfatase (GALNS) exon mutations in Brazilian patients with mucopolysaccharidosis (MPS IVA)

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Common N-acetylgalactosamine-6-sulfate sulfatase (GALNS) exon mutations in Brazilian patients with mucopolysaccharidosis (MPS IVA)

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Título Common N-acetylgalactosamine-6-sulfate sulfatase (GALNS) exon mutations in Brazilian patients with mucopolysaccharidosis (MPS IVA)
Autor Dieter, Tatiana
Matte, Ursula da Silveira
Schwartz, Ida Vanessa Doederlein
Tomatsu, Shunji
Giugliani, Roberto
Abstract 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.
Contido em Genetics and molecular biology. Ribeirão Preto. Vol. 30, no. 3 (Sept. 2007), p.524-528
Assunto Genética
Mucopolissacaridose
[en] GALNS mutation detection
[en] GALNS mutations
[en] mucopolysaccharidosis IVA
Origem Nacional
Tipo Artigo de periódico
URI http://hdl.handle.net/10183/23402
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