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
  • 1. Muscular and Neurodegenerative Disease Unit, Department of Neuroscience and Rehabilitation, University of Genova, Italy. [email protected]
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.