mucopolysaccharidosis type 3C
MIM.252930
Pathology
germline mutations in the gene encoding the heparin acetyl-CoA:alpha-glucosaminide N-acetyltransferase (HGSNAT; 610453) cause the Sanfilippo syndrome type C
See also
mucopolysaccharidoses
- mucopolysaccharidoses type 3 (Sanfilippo syndrome)
References
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. Epub 2006 Sep 8. PMID: #17033958#
Ausseil, J.; Loredo-Osti, J. C.; Verner, A.; Darmond-Zwaig, C.; Maire, I.; Poorthuis, B.; van Diggelen, O. P.; Hudson, T. J.; Fujiwara, T. M.; Morgan, K.; Pshezhetsky, A. V. : Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8. J. Med. Genet. 41: 941-944, 2004. PubMed ID : #15591281#