POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes

• Published in: Biochemical and biophysical research communications Vol. 363; no. 4; pp. 1033 - 1037
• Main Authors: Biancheri, Roberta, Falace, Antonio, Tessa, Alessandra, Pedemonte, Marina, Scapolan, Sara, Cassandrini, Denise, Aiello, Chiara, Rossi, Andrea, Broda, Paolo, Zara, Federico, Santorelli, Filippo Maria, Minetti, Carlo, Bruno, Claudio
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 30.11.2007
• Subjects: Base Sequence; Biopsy; Child, Preschool; Congenital muscular dystrophy; Dystroglycan; Female; Glycosylation; Humans; Inflammation - complications; Inflammation - genetics; Inflammation - metabolism; Mannosyltransferases - genetics; Mannosyltransferases - metabolism; Muscular Dystrophies, Limb-Girdle - complications; Muscular Dystrophies, Limb-Girdle - genetics; Muscular Dystrophies, Limb-Girdle - metabolism; Muscular Dystrophies, Limb-Girdle - pathology; Mutation - genetics; POMT2; Dystroglycan; POMT2; Glycosylation; Congenital muscular dystrophy
• ISSN: 0006-291X; 1090-2104
• DOI: 10.1016/j.bbrc.2007.09.066

Defects in glycosylation of α-dystroglycan are associated with several forms of muscular dystrophies. Mutations in POMT2 gene have been identified in patients with congenital muscular dystrophy and brain involvement, either characterized by a Walker–Warburg/muscle–eye–brain phenotype, or by microcephaly, mental retardation, and cerebellar hypoplasia. We identified a POMT2 homozygous missense mutation in a girl with a mild limb-girdle muscular dystrophy (LGMD) phenotype, marked elevated serum creatine kinase levels, and absence of brain involvement. Muscle biopsy revealed myopathic and inflammatory changes and severe α-dystroglycan reduction. In view of the remarkable mild clinical picture, we propose to designate this phenotype as LGMD2N.