2. Academic Validation
  3. POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum

POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum

  • Arch Neurol. 2006 Oct;63(10):1491-5. doi: 10.1001/archneur.63.10.1491.
Roberta Biancheri 1,  Enrico Bertini,  Antonio Falace,  Marina Pedemonte,  Andrea Rossi,  Adele D'Amico,  Sara Scapolan,  Laura Bergamino,  Stefania Petrini,  Denise Cassandrini,  Paolo Broda,  Mario Manfredi,  Federico Zara,  Filippo M Santorelli,  Carlo Minetti,  Claudio Bruno
Affiliations

Affiliation

  • 1 Muscular and Neurodegenerative Disease Unit, Department of Neuroscience and Rehabilitation, University of Genova, Italy. roberta@biancheri.com
PMID: 17030669 DOI: 10.1001/archneur.63.10.1491
Abstract

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 alpha-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.

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