title: PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy -Consequences in Clinical Diagnosis and Genetic Counselling.
abstract: 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.
authors.affiliation: APHP, Unité Fonctionnelle de Cardiogénétique et Myogénétique Moléculaire et Cellulaire, Service de Biochimie M?bolique, Hôpitaux Universitaires La Pitié Salpêtrière - Charles Foix, 47-83, bld de l'hôpital, Paris cedex 13, France/UMRS 956-UPMC, Paris 6, France.
authors.forename: Pascale
authors.initials: P
authors.lastname: Richard
authors.affiliation: Sorbonne Universités, UPMC Univ Paris 06, UM76, INSERM U974, Institut de Myologie, CNRS FRE3617, 47 bd de l'Hôpital,Paris, France.
authors.forename: Capucine
authors.initials: C
authors.lastname: Trollet
authors.affiliation: Sorbonne Universités, UPMC Univ Paris 06, UM76, INSERM U974, Institut de Myologie, CNRS FRE3617, 47 bd de l'Hôpital,Paris, France.
authors.forename: Teresa
authors.initials: T
authors.lastname: Gidaro
authors.affiliation: APHP, Unité Fonctionnelle de Cardiogénétique et Myogénétique Moléculaire et Cellulaire, Service de Biochimie M?bolique, Hôpitaux Universitaires La Pitié Salpêtrière - Charles Foix, 47-83, bld de l'hôpital, Paris cedex 13, France/UMRS 956-UPMC, Paris 6, France.
authors.forename: Laurence
authors.initials: L
authors.lastname: Demay
authors.affiliation: APHP, Unité de Morphologie Neuromusculaire, Pavillon Risler, Hôpitaux Universitaires La Pitié Salpêtrière - Charles Foix, Paris, France.
authors.forename: Guy
authors.initials: G
authors.lastname: Brochier
authors.affiliation: APHP, Unité de Morphologie Neuromusculaire, Pavillon Risler, Hôpitaux Universitaires La Pitié Salpêtrière - Charles Foix, Paris, France.
authors.forename: Edoardo
authors.initials: E
authors.lastname: Malfatti
authors.forename: Fernando Ms
authors.initials: FM
authors.lastname: Tom
authors.affiliation: APHP, Unité de Morphologie Neuromusculaire, Pavillon Risler, Hôpitaux Universitaires La Pitié Salpêtrière - Charles Foix, Paris, France.
authors.forename: Michel
authors.initials: M
authors.lastname: Fardeau
authors.forename: Pascal
authors.initials: P
authors.lastname: Lafor
authors.affiliation: APHP, Unité de Morphologie Neuromusculaire, Pavillon Risler, Hôpitaux Universitaires La Pitié Salpêtrière - Charles Foix, Paris, France.
authors.forename: Norma
authors.initials: N
authors.lastname: Romero
authors.forename: Marie-Laure
authors.initials: ML
authors.lastname: Martin-N
authors.forename: Guilhem
authors.initials: G
authors.lastname: Sol
authors.affiliation: CHU de Bordeaux, Centre de Référence des Maladies Neuromusculaires, Hôpital Pellegrin, Place Amelie Raba Leon, Bordeaux, France.
authors.forename: Xavier
authors.initials: X
authors.lastname: Ferrer-Monasterio
authors.affiliation: APHP, Service d'ORL et chirurgie cervicofaciale, hôpital Tenon, UPMC Université Paris 6, 4 rue de la Chine, Paris, France.
authors.forename: Jean Lacau
authors.initials: JL
authors.lastname: Saint-Guily
authors.affiliation: APHP, Centre de Référence des Maladies Neuromusculaires Paris Est, Unité de Morphologie Neuromusculaire, Hôpitaux Universitaires La Pitié Salpêtrière - Charles Foix, -83, bld de l'hôpital, Paris cedex 13, France.
authors.forename: Bruno
authors.initials: B
authors.lastname: Eymard
keywords: Oculopharyngeal muscular dystrophy; PABPN1 gene; genetics