PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy -Consequences in Clinical Diagnosis and Genetic Counselling
| Autor: | Xavier Ferrer-Monasterio, Guy Brochier, Marie-Laure Martin-N, Jean Lacau Saint-Guily, Bruno Eymard, Norma B. Romero, Teresa Gidaro, Capucine Trollet, Michel Fardeau, L. Demay, Guilhem Sol, Pascal Lafor, Pascale Richard, Fernando Ms Tom, Edoardo Malfatti |
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| Přispěvatelé: | CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Institute of Myology Paris France, Institut de Myologie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), CHU Bordeaux [Bordeaux] |
| Rok vydání: | 2016 |
| Předmět: |
Genetics
Research Report Muscle biopsy medicine.diagnostic_test Oculopharyngeal muscular dystrophy [SDV]Life Sciences [q-bio] PABPN1 gene Biology medicine.disease Penetrance Phenotype Neurology Ptosis Polymorphism (computer science) medicine genetics Neurology (clinical) medicine.symptom Allele Gene |
| Zdroj: | Journal of Neuromuscular Diseases Journal of Neuromuscular Diseases, 2015, 2 (2), pp.175-180. ⟨10.3233/JND-140060⟩ |
| ISSN: | 2214-3599 2214-3602 |
| DOI: | 10.3233/JND-140060⟩ |
| Popis: | Oculopharyngeal muscular dystrophy (OPMD) is mainly characterized by ptosis and dysphagia. The genetic cause is a short expansion of a (GCN)10 repeat encoding for polyalanine in the poly(A) binding protein nuclear 1 (PABPN1) gene to (GCN)12–17 repeats. The (GCN)11/Ala11 allele has so far been described to be either a polymorphism or a recessive allele with no effect on the phenotype in the heterozygous state. Here we report the clinical and histopathological phenotype of a patient carrying a single (GCN)11/Ala11 heterozygous allele and presenting an atypical form of OPMD with dysphagia and late and mild oculomotor symptoms. Intranuclear inclusions were observed in his muscle biopsy. This suggests a dominant mode of expression of the (GCN)11/Ala11 allele associated with a partial penetrance of OPMD. |
| Databáze: | OpenAIRE |
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