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Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant

Clement, EM; Godfrey, C; Tan, J; Brockington, M; Torelli, S; Feng, L; Brown, SC; ... Muntoni, F; + view all (2008) Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant. ARCH NEUROL-CHICAGO , 65 (1) 137 - 141.

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Abstract

Background: Mutations in protein-O-mannose-beta 1,2-N-acetylglucosaminyltransferase 1 (POMGnT1) have been found in muscle-eye-brain disease, a congenital muscular dystrophy with structural eye and brain defects and severe mental retardation.Objective: To investigate whether mutations in POMGnT1 could be responsible for milder allelic variants of muscular dystrophy.Design: Screening for mutations in POMGnT1.Setting: Tertiary, neuromuscular unit.Patient: A patient with limb-girdle muscular dystrophy phenotype, with onset at 12 years of age, severe myopia, normal intellect, and decreased a-dystroglycan immunolabeling in skeletal muscle.Results: A homozygous POMGnT1 missense mutation (c.1666G > A, p.Asp556Asn) was identified. Enzyme studies of the patient's fibroblasts showed an altered kinetic profile, less marked than in patients with muscle-eye-brain disease and in keeping with the relatively mild phenotype in our patient.Conclusions: Our findings widen the spectrum of disorders known to result from mutations in POMGnT1 to include limb-girdle muscular dystrophy with no mental retardation. We propose that this condition be known as LGMD2M. The enzyme assay used to diagnose muscle-eye-brain disease may not detect subtle abnormalities of POMGnT1 function, and additional kinetic studies must be carried out in such cases.

Type: Article
Title: Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant
Keywords: EYE-BRAIN DISEASE, WALKER-WARBURG-SYNDROME, ALPHA-DYSTROGLYCAN, EXPRESSION, GENE, BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE-I, GLYCOSYLTRANSFERASE, MDC1C, FORM
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health > ICH Developmental Neurosciences Prog
URI: http://discovery.ucl.ac.uk/id/eprint/63071
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