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Characterization of PABPN1 expansion mutations in a large cohort of Mexican patients with oculopharyngeal muscular dystrophy (OPMD)
  1. Marisa Cruz-Aguilar1,
  2. Caroline Guerrero-de Ferran2,
  3. Jose Luis Tovilla-Canales2,
  4. Angel Nava-Castañeda2,
  5. Juan C Zenteno1,3
  1. 1Department of Genetics-Research Unit, Institute of Ophthalmology “Conde de Valenciana”, Mexico City, Mexico
  2. 2Department of Oculoplastics, Institute of Ophthalmology “Conde de Valenciana”, Mexico City, Mexico
  3. 3Faculty of Medicine, Department of Biochemistry, UNAM, Mexico City, Mexico
  1. Correspondence to Dr Juan C Zenteno, Department of Genetics, Institute of Ophthalmology “Conde de Valenciana”, Chimalpopoca 14, Col. Obrera, Cuauhtemoc, Mexico City 06800, Mexico; jczenteno{at}


Oculopharyngeal muscular dystrophy (OPMD) is an autosomal-dominant, adult-onset disorder defined by blepharoptosis, dysphagia, and proximal muscle weakness. OPMD arises from heterozygous expansions of a trinucleotide (GCN) tract situated at the 5′ region of the polyadenylate RNA binding protein 1 (PABPN1) gene. The frequency of a particular (GCN) expansion in a given population of patients with OPMD is largely influenced by the occurrence of founder mutations. Analysis of large groups of patients with OPMD from different ethnic origins will help to estimate the relative contribution of each expanded allele to the disease. The purpose of this study was to characterize the type of PABPN1 expanded alleles in a large cohort of OPMD individuals from Mexico. Molecular analysis procedures included genomic DNA extraction from blood leukocytes in each patient followed by PCR amplification of PABPN1 exon 1, and direct nucleotide sequencing of PCR products. A total of 102 patients with OPMD were included in the study. Expanded PABPN1 gene alleles were demonstrated in all patients: 65% (66 out of 102) had a (GCN)15 expansion while the remaining 35% (36 out of 102) exhibited a (GCN)13 expansion. This is one of the largest series of molecularly confirmed patients with OPMD in a non-Caucasian population. Ethnic-specific differences in the prevalence of specific PABPN1 expansions must be considered for genetic screening of patients with OPMD.

  • Eye Abnormalities
  • Eye Diseases, Hereditary

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  • Competing interests None declared.

  • Ethics approval Institutional Review Board on Ethics ‘Conde de Valenciana’.

  • Provenance and peer review Not commissioned; externally peer reviewed.