Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase α- and β-subunit (GNPTAB) gene mutations causing mucolipidosis types IIα/β and IIIα/β in 46 patients

• Published in: Human mutation Vol. 30; no. 11; pp. E956 - E973
• Main Authors: Tappino, Barbara, Chuzhanova, Nadia A, Regis, Stefano, Dardis, Andrea, Corsolini, Fabio, Stroppiano, Marina, Tonoli, Emmanuel, Beccari, Tommaso, Rosano, Camillo, Mucha, Jan, Blanco, Mariana, Szlago, Marina, Di Rocco, Maja, Cooper, David N, Filocamo, Mirella
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.11.2009
• Subjects: GNPTAB; Mucolipidosis II; Mucolipidosis III; polymorphisms

Mutational analysis of the GNPTAB gene was performed in 46 apparently unrelated patients with mucolipidosis IIα/β or IIIα/β, characterized by the mistargeting of multiple lysosomal enzymes as a consequence of a UDP-GlcNAc-1-phosphotransferase defect. The GNPTAB mutational spectrum comprised 25 disti...