POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum
| Autor: | Roberta Biancheri, Stefania Petrini, Carlo Minetti, Claudio Bruno, Denise Cassandrini, Adele D'Amico, Federico Zara, Mario Manfredi, Antonio Falace, Marina Pedemonte, Paolo Broda, Enrico Bertini, Filippo M. Santorelli, Laura Bergamino, Sara Scapolan, Andrea Rossi |
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| Jazyk: | angličtina |
| Rok vydání: | 2006 |
| Předmět: |
Adult
Glycation End Products Advanced Male Pathology medicine.medical_specialty Genotype DNA Mutational Analysis Disease Immunofluorescence medicine.disease_cause N-Acetylglucosaminyltransferases Muscular Dystrophies Retina Arts and Humanities (miscellaneous) Sequence Homology Nucleic Acid medicine Humans Genetic Predisposition to Disease Muscular dystrophy Child Dystroglycans Muscle Skeletal Conserved Sequence Mutation Muscle biopsy medicine.diagnostic_test business.industry Brain Syndrome medicine.disease Phenotype Magnetic Resonance Imaging Congenital muscular dystrophy Female Neurology (clinical) business |
| Popis: | 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 α-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. |
| Databáze: | OpenAIRE |
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