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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Published inGenetics and molecular biology Vol. 30; no. 3; pp. 524 - 528
Main Authors Dieter, Tatiana, Matte, Ursula da Silveira, Schwartz, Ida Vanessa, Tomatsu, Shunji, Giugliani, Roberto
Format Journal Article
LanguageEnglish
Portuguese
Published Sociedade Brasileira de Genética 2007
Subjects
BIOCHEMISTRY & MOLECULAR BIOLOGY
GALNS mutation detection
GALNS mutations
GENETICS & HEREDITY
mucopolysaccharidosis IVA
GALNS mutation detection
mucopolysaccharidosis IVA
GALNS mutations
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Summary: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
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
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ISSN:1415-4757
1678-4685
1415-4757
1678-4685
DOI:10.1590/S1415-47572007000400004