Mucopolysaccharidosis type IIIC (Sanfilippo C Syndrome)
OMIM:252930Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease
Mutations
| Gene Symbol | HGSNAT |
|---|---|
| Reference transcript | NM_152419.2 |
| DNA Change | c.318+1G>A |
| A.A. Change | p.D68VfsX19 |
| Exon/Intron | intron 2 |
| Mutation Type | substitution |
| Reference | Hrebicek M, Mrazova L, Seyrantepe V, Durand S, Roslin NM, Noskova L, Hartmannova H, Ivanek R, Cizkova A, Poupetova H, Sikora J, Urinovska J, Stranecky V, Zeman J, Lepage P, Roquis D, Verner A, Ausseil J, Beesley CE, Maire I, Poorthuis BJ, van de Kamp J, van Diggelen OP, Wevers RA, Hudson TJ, Fujiwara TM, Majewski J, Morgan K, Kmoch S, Pshezhetsky AV.Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Am J Hum Genet. 2006 Nov;79(5):807-19. |
| Gene Symbol | HGSNAT |
|---|---|
| Reference transcript | NM_152419.2 |
| DNA Change | c.794C>A |
| A.A. Change | p. P265Q |
| Exon/Intron | exon 7 |
| Mutation Type | substitution |
| Reference | Hrebicek M, Mrazova L, Seyrantepe V, Durand S, Roslin NM, Noskova L, Hartmannova H, Ivanek R, Cizkova A, Poupetova H, Sikora J, Urinovska J, Stranecky V, Zeman J, Lepage P, Roquis D, Verner A, Ausseil J, Beesley CE, Maire I, Poorthuis BJ, van de Kamp J, van Diggelen OP, Wevers RA, Hudson TJ, Fujiwara TM, Majewski J, Morgan K, Kmoch S, Pshezhetsky AV.Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Am J Hum Genet. 2006 Nov;79(5):807-19. |
| Gene Symbol | HGSNAT |
|---|---|
| Reference transcript | NM_152419.2 |
| DNA Change | c.338T>C |
| A.A. Change | p.L113P |
| Exon/Intron | exon 3 |
| Mutation Type | substitution |
| Reference | Canals I, Elalaoui SC, Pineda M, Delgadillo V, Szlago M, Jaouad IC, Sefiani A, Chabas A, Coll MJ, Grinberg D, Vilageliu L.Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles. Clin Genet. 2010 Aug 2. |
| Gene Symbol | HGSNAT |
|---|---|
| Reference transcript | NM_152419.2 |
| DNA Change | c.234+1G>A |
| A.A. Change | p.D40VfsX19 |
| Exon/Intron | Intron 2 |
| Mutation Type | substitution |
| Reference | Canals I, Elalaoui SC, Pineda M, Delgadillo V, Szlago M, Jaouad IC, Sefiani A, Chabas A, Coll MJ, Grinberg D, Vilageliu L.Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles. Clin Genet. 2010 Aug 2. |