Your browser doesn't support javascript.
loading
Novel ANO5 intronic Roma variant alters splicing causing muscular dystrophy.
Mavillard, Fabiola; Servián-Morilla, Emilia; Rivas, Eloy; Paradas, Carmen; Cabrera-Serrano, Macarena.
Afiliação
  • Mavillard F; Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Sevilla, Spain.
  • Servián-Morilla E; Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (CIBERNED), Instituto de salud Carlos III, Sevilla, Spain.
  • Rivas E; Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Sevilla, Spain.
  • Paradas C; Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (CIBERNED), Instituto de salud Carlos III, Sevilla, Spain.
  • Cabrera-Serrano M; Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Sevilla, Spain.
Clin Genet ; 100(1): 106-110, 2021 07.
Article em En | MEDLINE | ID: mdl-33818761
The pathogenic role of intronic variants is generally difficult to assess, except for those near known splice sites for which aberrant splicing is suspected, although deeper intronic variants can also alter splicing. We have identified a novel (NM_213599.2:c.1180+6T>C) ANO5 variant that causes the exclusion of exon 12. The mutation, identified in a Roma individual, has an estimated carrier rate of 1.68% among the Iberian Roma population, this being the first ANO5 pathogenic variant communicated in this ethnic group. In this study, we have also characterized the ANO5 splice forms expressed in human muscle with the detection of an alternative transcript, in which exons 8 and 9 are spliced out.
Assuntos
Palavras-chave

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Íntrons / Roma (Grupo Étnico) / Splicing de RNA / Anoctaminas / Distrofias Musculares Tipo de estudo: Prognostic_studies Limite: Female / Humans / Middle aged Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Íntrons / Roma (Grupo Étnico) / Splicing de RNA / Anoctaminas / Distrofias Musculares Tipo de estudo: Prognostic_studies Limite: Female / Humans / Middle aged Idioma: En Ano de publicação: 2021 Tipo de documento: Article