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Genotype-Phenotype Correlation and Expanded Clinical Spectrum

Roberta Biancheri, MD; Enrico Bertini, MD; Antonio Falace, BSc; Marina Pedemonte, MD; Andrea Rossi, MD; Adele D’Amico, MD; Sara Scapolan, MD; Laura Bergamino, MD; Stefania Petrini, PhD; Denise Cassandrini, PhD; Paolo Broda, ST; Mario Manfredi, MD; Federico Zara, PhD; Filippo M. Santorelli, MD; Carlo Minetti, MD; Claudio Bruno, MD

Arch Neurol. 2006;63:1491-1495.

Background  Muscle-eye-brain disease is a congenital muscular dystrophy with eye and brain involvement due to POMGnT1 mutations.

Objective  To describe the clinical and molecular features of 3 Italian patients with POMGnT1 mutations.

Design  Case reports.

Patients  One patient had muscle and brain abnormalities without eye involvement. Two patients had a classic muscle-eye-brain disease phenotype with different levels of clinical severity.

Results  Brain magnetic resonance imaging showed cortical malformation and posterior fossa involvement. Immunofluorescence for glycosylated -dystroglycan performed on muscle biopsy specimens demonstrated an absent signal in 1 patient and reduced staining in 2 patients. Molecular analysis identified 5 mutations, 2 of which are novel.

Conclusion  This article adds to what is known about the genotype-phenotype correlation and expands our awareness of the clinical spectrum associated with POMGnT1 mutations.

Author Affiliations: Muscular and Neurodegenerative Disease Unit, Department of Neuroscience and Rehabilitation, University of Genova (Drs Biancheri, Pedemonte, Scapolan, Bergamino, Cassandrini, Zara, Minetti, and Bruno and Messers Falace and Broda), and Neuroradiology Unit, Giannina Gaslini Institute (Dr Rossi), Genova; Unit of Molecular Medicine, Department of Laboratory Medicine, Bambino Gesù Children's Research Hospital (Drs Bertini, D’Amico, Petrini, and Santorelli), and Department of Neurological Sciences, University of Rome "La Sapienza" (Dr Manfredi), Rome; and Istituto di Ricovero e Cura a Carattere Scientifico NEUROMED, Pozzilli, Isernia (Dr Manfredi); Italy.