Communicated by Elizabeth F. Neufeld
Mutation in Brief
Article first published online: 14 FEB 2005
© 2005 Wiley-Liss, Inc.
Volume 25, Issue 3, page 320, March 2005
How to Cite
Sbaragli, M., Bibi, L., Pittis, M. G., Balducci, C., Heikinheimo, P., Ricci, R., Antuzzi, D., Parini, R., Spaccini, L., Bembi, B. and Beccari, T. (2005), Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosis. Hum. Mutat., 25: 320. doi: 10.1002/humu.9310
Online Citation: Human Mutation, Mutation in Brief #781 (2005) Onlinehttp://www3.interscience.wiley.com/homepages/38515/pdf/781.pdf
- Issue published online: 23 FEB 2005
- Article first published online: 14 FEB 2005
- Manuscript Accepted: 21 NOV 2004
- Manuscript Received: 26 AUG 2004
- Cited By
- structural 3D analysis
Mutation analysis performed on six Italian families with alpha-mannosidosis type II allowed the identification of five new mutations in the MAN2B1 gene: c.157G>T, c.562C>T, c.599A>T, c.293dupA, c.2402G>A (p.E53X, p.R188X, p.H200L, p.Y99VfsX61, p.G801D). Protein residues G801 and H200 are conserved among the four mammalian alpha-mannosidases cloned to date: human, cattle, cat and mouse. In vitro expression studies demonstrated that both missense mutations expressed no residual alpha-mannosidase activity indicating that they are disease-causing mutations. Modelling into the three-dimensional structure revealed that the p.H200L could involve the catalytic mechanism, whereas p.G801D would affect the correct folding of the enzyme. © 2005 Wiley-Liss, Inc.