Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive disorder caused by a deficiency of the lysosomal N-acetylgalactosamine-6-sulfate sulfatase. Here, we report our analysis of data on 21 patients of diverse ethnic and geographic origins studied by SSCP and sequencing analysis. Sixteen mutations were detected, including 14 new mutations (11 missense, one premature termination, one splice site alteration, and one cryptic site alteration). The donor splice site mutation (IVS4 + 1G-->A) predicts that normal splicing will be abolished and that translation would lead to an immediate premature termination (W141X). Another novel nucleotide change outside the coding sequence is an intronic alteration (IVS9-42C-->T:ggtcggtgcggttggtgc) creating a potential cryptic donor site. The nucleotide sequence surrounding this alteration is highly suggestive of a consensus donor splice site. All 12 missense and nonsense mutations were shown by transient expression to abolish or greatly reduce GALNS activity, thereby providing an explanation as to why they produce MPS IVA. All mutations were readily confirmed by restriction enzyme or by allelic specific oligonucleotide analysis (ASO). These findings, coupled with previously reported mutations, bring the total of different mutations to 41 among independent families with MPS IVA, illustrating the extensive allelic heterogeneity among mutations producing MPS IVA.
Ao longo de sua história, a educação escolar, principalmente a oferecida pelas instituições educacionais, tem sido vista como ponto de ancoragem para interesses da política, da economia, da filosofia, da ciência, da religião e de ideologias de todo tipo. Como a educação formal no Brasil deveu-se a missionários católicos, a questão da história do ensino confessional configurou-se como uma ampla área de pesquisa, de forma que diversos pesquisadores têm se debruçado sobre essa temática. Contudo, percebe-se uma deficiência no interesse da historiografia pela institucionalização da educação confessional protestante, que, sem dúvida, também colaborou explicitamente para o desenvolvimento da educação e para sua promoção como direito.
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