title: Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a Chinese population.
abstract: Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant late-onset neuromuscular degenerative disease characterized by ptosis, dysphagia, and proximal muscle weakness. The genetic basis has been identified as an abnormal (GCN) expansion encoding the polyalanine tract in exon 1 of the polyadenylate-binding protein nuclear 1 gene (PABPN1). OPMD is worldwide distributed, but has rarely been reported in East Asians. In this study, we summarized the clinical and genetic characteristics of 34 individuals from 13 unrelated families in Chinese population. In our cohort, the mean age at onset was 47.2 years. Dysphagia, rather than ptosis, was the most common initial symptom. Genetically, we identified seven genotypes in our patients, including one compound heterozygote of (GCN)11/(GCN)12. The genetic heterogeneity implies that there is no single founder effect in Chinese population, and our data also support that the (GCN)11 polymorphism may have a disease-modifying effect. Additionally, the clinical features showed homogeneity within families, which suggests that other genetic factors apart from the already known genotype also play a role in modifying the phenotype.
authors.affiliation: Laboratory of Neuromuscular Disorders and Department of Neurology, Qilu Hospital, Shandong University, Jinan, 250012, China.
authors.forename: Jingli
authors.initials: J
authors.lastname: Shan
authors.forename: Bin
authors.initials: B
authors.lastname: Chen
authors.forename: Pengfei
authors.initials: P
authors.lastname: Lin
authors.forename: Duoling
authors.initials: D
authors.lastname: Li
authors.forename: Yuebei
authors.initials: Y
authors.lastname: Luo
authors.forename: Kunqian
authors.initials: K
authors.lastname: Ji
authors.forename: Jinfan
authors.initials: J
authors.lastname: Zheng
authors.forename: Yun
authors.initials: Y
authors.lastname: Yuan
authors.forename: Chuanzhu
authors.initials: C
authors.lastname: Yan
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D001763:Blepharoptosis / Q000209:etiology; D002681:China / Q000453:epidemiology; D015331:Cohort Studies; D003434:Crossing Over, Genetic; D003680:Deglutition Disorders / Q000209:etiology; D004576:Electromyography; D005091:Exons / Q000235:genetics; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000648:ultrastructure; D009133:Muscular Atrophy / Q000209:etiology; D039141:Muscular Dystrophy, Oculopharyngeal / Q000453:epidemiology* / Q000208:ethnology / Q000235:genetics; D009154:Mutation; D009431:Neural Conduction; D010641:Phenotype; D039122:Poly(A)-Binding Protein I / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion
chemical_list: C576588:PABPN1 protein, human; D039122:Poly(A)-Binding Protein I