| Phenotype: | Mucopolysaccharidosis IVA (Morquio A syndrome) |
|---|---|
| Dna Change: | c.IVS1+1G>A |
| Protein Change: | |
| Mutation Type: | Substitution |
| Mutation Effect: | Splice site |
| Location: | intron 1 |
| Transcript: | NM_000512.4 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|---|---|---|---|---|
| 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 |
| Phenotype: | Mucopolysaccharidosis IVA (Morquio A syndrome) |
|---|---|
| Dna Change: | c.1168delC |
| Protein Change: | p.Leu390* |
| Mutation Type: | Deletion |
| Mutation Effect: | |
| Location: | exon 11 |
| Transcript: | NM_000512.4 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|---|---|---|---|---|
| Turkey | NA | NA | 1 patient | NA | Khedhiri S et al., 2014Khedhiri 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 |
| Phenotype: | Mucopolysaccharidosis IVA (Morquio A syndrome) |
|---|---|
| Dna Change: | c.421T>A |
| Protein Change: | p.Trp141Arg |
| Mutation Type: | Substitution |
| Mutation Effect: | Missense |
| Location: | exon 4 |
| Transcript: | NM_000512.4 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|---|---|---|---|---|
| Turkey | NA | NA | 1 patient | NA | Khedhiri S et al., 2014Khedhiri 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 |
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