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Genetics and Molecular Biology
Print version ISSN 1415-4757
DIETER, Tatiana et al. Common N-acetylgalactosamine-6-sulfate sulfatase (GALNS) exon mutations in Brazilian patients with mucopolysaccharidosis IVA (MPS IVA). Genet. Mol. Biol. [online]. 2007, vol.30, n.3, pp. 524-528. ISSN 1415-4757. http://dx.doi.org/10.1590/S1415-47572007000400004.
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.
Keywords : GALNS mutations; GALNS mutation detection; mucopolysaccharidosis IVA.