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Clinical features and molecular characterization of a patient with muscle-eye-brain disease: A novel mutation in the POMGNT1 gene

AuthorsRaducu, Madalina; Cotarelo, R. P.; Simón, Rogelio; Camacho, Ana ; Rubio, Marcos; Hernández-Laín, Aurelio; Cruces, Jesús
Issue Date2014
PublisherSage Publications
CitationJournal of Child Neurology 29(2): 289-294 (2014)
AbstractMuscle-eye-brain disease is a congenital muscular dystrophy characterized by structural brain and eye defects. Here, we describe a 12-year-old boy with partial agenesis of corpus callosum, ventriculomegaly, flattened brain stem, diffuse pachygyria, blindness, profound cognitive deficiencies, and generalized muscle weakness, yet without a clear dystrophic pattern on muscle biopsy. There was no glycosylation of α-dystroglycan and the genetic screening revealed a novel truncating mutation, c.1545delC (p.Tyr516Thrfs*21), and a previously identified missense mutation, c.1469G>A (p.Cys490Tyr), in the protein O-mannose beta-1,2-N-acetylglucosaminyltransferase 1 (POMGNT1) gene. These findings broaden the clinical spectrum of muscle-eye-brain disease to include pronounced hypotonia with severe brain and eye malformations, yet with mild histopathologic changes in the muscle specimen, despite the absence of glycosylated α-dystroglycan.
Publisher version (URL)https://doi.org/10.1177/0883073813509119
Identifiersdoi: 10.1177/0883073813509119
issn: 0883-0738
e-issn: 1708-8283
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