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

• Autor(a) principal: Dieter, Tatiana
• Data de Publicação: 2007
• Outros Autores: Matte, Ursula da Silveira, Schwartz, Ida Vanessa Doederlein, Tomatsu, Shunji, Giugliani, Roberto
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Institucional da UFRGS
• Texto Completo: http://hdl.handle.net/10183/23402
• topic: Genética; Mucopolissacaridose IV; Mutação; GALNS mutations; GALNS mutation detection; Mucopolysaccharidosis IVA

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.