Common N-acetylgalactosamine-6-sulfate sulfatase (GALNS) exon mutations in Brazilian patients with mucopolysaccharidosis IVA (MPS 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 o...
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| Format: | Article |
| Language: | English |
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Sociedade Brasileira de Genética
2007-01-01
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| Series: | Genetics and Molecular Biology |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000400004 |
| _version_ | 1818523572392427520 |
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| author | Tatiana Dieter Ursula da Silveira Matte Ida Vanessa Schwartz Shunji Tomatsu Roberto Giugliani |
| author_facet | Tatiana Dieter Ursula da Silveira Matte Ida Vanessa Schwartz Shunji Tomatsu Roberto Giugliani |
| author_sort | Tatiana Dieter |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-11T05:46:32Z |
| format | Article |
| id | doaj.art-2ca6bf9e611b4d14965cad535a1dd549 |
| institution | Directory Open Access Journal |
| issn | 1415-4757 1678-4685 |
| language | English |
| last_indexed | 2024-12-11T05:46:32Z |
| publishDate | 2007-01-01 |
| publisher | Sociedade Brasileira de Genética |
| record_format | Article |
| series | Genetics and Molecular Biology |
| spelling | doaj.art-2ca6bf9e611b4d14965cad535a1dd5492022-12-22T01:18:57ZengSociedade Brasileira de GenéticaGenetics and Molecular Biology1415-47571678-46852007-01-0130352452810.1590/S1415-47572007000400004Common N-acetylgalactosamine-6-sulfate sulfatase (GALNS) exon mutations in Brazilian patients with mucopolysaccharidosis IVA (MPS IVA)Tatiana DieterUrsula da Silveira MatteIda Vanessa SchwartzShunji TomatsuRoberto GiuglianiMorquio 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000400004GALNS mutationsGALNS mutation detectionmucopolysaccharidosis IVA |
| spellingShingle | Tatiana Dieter Ursula da Silveira Matte Ida Vanessa Schwartz Shunji Tomatsu Roberto Giugliani Common N-acetylgalactosamine-6-sulfate sulfatase (GALNS) exon mutations in Brazilian patients with mucopolysaccharidosis IVA (MPS IVA) Genetics and Molecular Biology GALNS mutations GALNS mutation detection mucopolysaccharidosis IVA |
| title | Common N-acetylgalactosamine-6-sulfate sulfatase (GALNS) exon mutations in Brazilian patients with mucopolysaccharidosis IVA (MPS IVA) |
| title_full | Common N-acetylgalactosamine-6-sulfate sulfatase (GALNS) exon mutations in Brazilian patients with mucopolysaccharidosis IVA (MPS IVA) |
| title_fullStr | Common N-acetylgalactosamine-6-sulfate sulfatase (GALNS) exon mutations in Brazilian patients with mucopolysaccharidosis IVA (MPS IVA) |
| title_full_unstemmed | Common N-acetylgalactosamine-6-sulfate sulfatase (GALNS) exon mutations in Brazilian patients with mucopolysaccharidosis IVA (MPS IVA) |
| title_short | Common N-acetylgalactosamine-6-sulfate sulfatase (GALNS) exon mutations in Brazilian patients with mucopolysaccharidosis IVA (MPS IVA) |
| title_sort | common n acetylgalactosamine 6 sulfate sulfatase galns exon mutations in brazilian patients with mucopolysaccharidosis iva mps iva |
| topic | GALNS mutations GALNS mutation detection mucopolysaccharidosis IVA |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000400004 |
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