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

Abstract
Muscle-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.
AuthorsMadalina Raducu, Rocío P Cotarelo, Rogelio Simón, Ana Camacho, Marcos Rubio-Fernández, Aurelio Hernández-Laín, Jesús Cruces
JournalJournal of child neurology (J Child Neurol) Vol. 29 Issue 2 Pg. 289-94 (Feb 2014) ISSN: 1708-8283 [Electronic] United States
PMID24282183 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • N-Acetylglucosaminyltransferases
  • protein O-mannose beta-1,2-N-acetylglucosaminyltransferase
Topics
  • Biopsy
  • Brain (pathology)
  • Child
  • DNA Mutational Analysis
  • Humans
  • Immunoblotting
  • Immunohistochemistry
  • Magnetic Resonance Imaging
  • Male
  • Mutation
  • Mutation, Missense
  • N-Acetylglucosaminyltransferases (genetics)
  • Quadriceps Muscle (metabolism, pathology)
  • Walker-Warburg Syndrome (genetics, pathology, physiopathology)

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