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2008: Manya Hiroshi; Bouchet Céline; Yanagisawa Akiko; Vuillaumier-Barrot Sandrine; Quijano-Roy Susana; Suzuki Yasushi; Maugenre Svetlana; Richard Pascale; Inazu Toshiyuki; Merlini Luciano; Romero Norma B; Leturcq France; Bezier Isabelle; Topaloglu Haluk; Estournet Brigitte; Seta Nathalie; Endo Tamao; Guicheney Pascale
Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies.
Neuromuscular disorders : NMD 2008;18(1):45-51.
Defects in O-mannosylation of alpha-dystroglycan cause some forms of congenital muscular dystrophy (CMD), the so-called alpha-dystroglycanopathies. Six genes are responsible for these diseases with overlapping phenotypes. We investigated the usefulness of a biochemical approach for the diagnosis and investigation of the alpha-dystroglycanopathies using immortalized lymphoblasts prepared from genetically diagnosed and undiagnosed CMD patients and from control subjects. We measured the activities of protein O-mannose beta1,2-N-acetylglucosaminyltransferase 1 (POMGnT1) and protein O-mannosyltransferase (POMT). Lymphoblasts from patients harbouring known mutations in either POMGNT1 or POMT1 showed a marked decrease in POMGnT1 or POMT activity, respectively, compared to controls. Furthermore, we identified pathogenic mutations in POMGNT1, POMT1 or POMT2 in six previously genetically uncharacterised patients who had very low enzyme activity. In conclusion, the lymphoblast-based enzymatic assay is a sensitive and useful method (i) to select patients harbouring POMGNT1, POMT1 or POMT2 mutations; (ii) to assess the pathogenicity of new or already described mutations.

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