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Expanding the phenotype of GMPPB mutations

Cabrera-Serrano, M., Ghaoui, R., Ravenscroft, G., Johnsen, R.D., Davis, M.R., Corbett, A., Reddel, S., Sue, C.M., Liang, C., Waddell, L.B., Kaur, S., Lek, M., North, K.N., MacArthur, D.G., Lamont, P.J., Clarke, N.F. and Laing, N.G. (2015) Expanding the phenotype of GMPPB mutations. Brain, 138 (4). pp. 836-844.

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Dystroglycanopathies are a heterogeneous group of diseases with a broad phenotypic spectrum ranging from severe disorders with congenital muscle weakness, eye and brain structural abnormalities and intellectual delay to adult-onset limb-girdle muscular dystrophies without mental retardation. Most frequently the disease onset is congenital or during childhood. The exception is FKRP mutations, in which adult onset is a common presentation. Here we report eight patients from five non-consanguineous families where next generation sequencing identified mutations in the GMPPB gene. Six patients presented as an adult or adolescent-onset limb-girdle muscular dystrophy, one presented with isolated episodes of rhabdomyolysis, and one as a congenital muscular dystrophy. This report expands the phenotypic spectrum of GMPPB mutations to include limb-girdle muscular dystrophies with adult onset with or without intellectual disability, or isolated rhabdomyolysis.

Item Type: Journal Article
Murdoch Affiliation: Centre for Comparative Genomics
Publisher: Oxford University Press
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