Clinical Features and Molecular Characterization of a Patient With Muscle-Eye-Brain Disease

Author:

Raducu Madalina1,Cotarelo Rocío P.1,Simón Rogelio2,Camacho Ana2,Rubio-Fernández Marcos1,Hernández-Laín Aurelio3,Cruces Jesús1

Affiliation:

1. Departamento de Bioquímica, Instituto de Investigaciones Biomédicas “Alberto Sols” UAM-CSIC, IdIPAZ, Facultad de Medicina, Universidad Autónoma de Madrid, Madrid, Spain

2. Sección de Neurología Pediátrica, Hospital Universitario 12 de Octubre, Madrid, Spain

3. Sección de Neuropatología, Hospital Universitario 12 de Octubre, Madrid, Spain

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.

Publisher

SAGE Publications

Subject

Neurology (clinical),Pediatrics, Perinatology and Child Health

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