OMIM: 253000Inheritance: Autosomal recessive
Classification: Endocrine, nutritional and metabolic disease
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | GALNS |
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| Dna Change: | c.IVS1+1G>A |
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| Protein Change: | |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Splice site |
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| Location: | intron 1 |
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| Transcript: | NM_000512.4 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Tunisia | NA | NA | 5 patients / 6 patients | NA | Laradi S et al., 2006Laradi S, Tukel T, Khediri S, Shabbeer J, Erazo M, Chkioua L, Chaabouni M, Ferchichi S, Miled A, Desnick RJ, . Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients.. Mol. Genet. Metab.. 2006; 87(3):213-8 |
| Gene/Locus: | GALNS |
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| Dna Change: | c.1168delC |
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| Protein Change: | p.Leu390* |
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| Mutation Type: | Deletion |
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| Mutation Effect: | |
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| Location: | exon 11 |
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| Transcript: | NM_000512.4 |
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| Gene/Locus: | GALNS |
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| Dna Change: | c.421T>A |
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| Protein Change: | p.Trp141Arg |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 4 |
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| Transcript: | NM_000512.4 |
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References
Khedhiri S, Chkioua L, Elcioglu N, Laradi S, Miled A, Mutations and polymorphisms in N-acetylgalactosamine-6-sulfate sulfatase gene in Turkish Morquio A patients.Pathol. Biol.. 2014; 62(1):38-40
Laradi S, Tukel T, Khediri S, Shabbeer J, Erazo M, Chkioua L, Chaabouni M, Ferchichi S, Miled A, Desnick RJ, Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients.Mol. Genet. Metab.. 2006; 87(3):213-8