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Characterization of PABPN1 expansion mutations in a large cohort of Mexican patients with oculopharyngeal muscular dystrophy (OPMD).
Cruz-Aguilar, Marisa; Guerrero-de Ferran, Caroline; Tovilla-Canales, Jose Luis; Nava-Castañeda, Angel; Zenteno, Juan C.
Afiliação
  • Cruz-Aguilar M; Department of Genetics-Research Unit, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico.
  • Guerrero-de Ferran C; Department of Oculoplastics, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico.
  • Tovilla-Canales JL; Department of Oculoplastics, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico.
  • Nava-Castañeda A; Department of Oculoplastics, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico.
  • Zenteno JC; Department of Genetics-Research Unit, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico.
J Investig Med ; 65(3): 705-708, 2017 03.
Article em En | MEDLINE | ID: mdl-27980005
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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Expansão das Repetições de Trinucleotídeos / Distrofia Muscular Oculofaríngea / Proteína I de Ligação a Poli(A) Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Female / Humans / Male / Middle aged País/Região como assunto: Mexico Idioma: En Revista: J Investig Med Assunto da revista: MEDICINA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: México País de publicação: Reino Unido
Texto completo
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XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Expansão das Repetições de Trinucleotídeos / Distrofia Muscular Oculofaríngea / Proteína I de Ligação a Poli(A) Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Female / Humans / Male / Middle aged País/Região como assunto: Mexico Idioma: En Revista: J Investig Med Assunto da revista: MEDICINA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: México País de publicação: Reino Unido