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A Splicing Variant in RDH8 Is Associated with Autosomal Recessive Stargardt Macular Dystrophy.
Zampatti, Stefania; Peconi, Cristina; Calvino, Giulia; Ferese, Rosangela; Gambardella, Stefano; Cascella, Raffaella; Sebastiani, Jacopo; Falsini, Benedetto; Cusumano, Andrea; Giardina, Emiliano.
Afiliación
  • Zampatti S; Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, 00179 Rome, Italy.
  • Peconi C; Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, 00179 Rome, Italy.
  • Calvino G; Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, 00179 Rome, Italy.
  • Ferese R; Neuromed IRCSS, 86077 Pozzilli, Italy.
  • Gambardella S; Neuromed IRCSS, 86077 Pozzilli, Italy.
  • Cascella R; Department of Biomolecular Sciences, University of Urbino "Carlo Bo", 61029 Urbino, Italy.
  • Sebastiani J; Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, 00179 Rome, Italy.
  • Falsini B; Department of Biomedical Sciences, Catholic University Our Lady of Good Counsel, 1000 Tirana, Albania.
  • Cusumano A; Macula & Genoma Foundation, 00133 Rome, Italy.
  • Giardina E; Macula & Genoma Foundation, 00133 Rome, Italy.
Genes (Basel) ; 14(8)2023 08 21.
Article en En | MEDLINE | ID: mdl-37628710
ABSTRACT
Stargardt macular dystrophy is a genetic disorder, but in many cases, the causative gene remains unrevealed. Through a combined approach (whole-exome sequencing and phenotype/family-driven filtering algorithm) and a multilevel validation (international database searching, prediction scores calculation, splicing analysis assay, segregation analyses), a biallelic mutation in the RDH8 gene was identified to be responsible for Stargardt macular dystrophy in a consanguineous Italian family. This paper is a report on the first family in which a biallelic deleterious mutation in RDH8 is detected. The disease phenotype is consistent with the expected phenotype hypothesized in previous studies on murine models. The application of the combined approach to genetic data and the multilevel validation allowed the identification of a splicing mutation in a gene that has never been reported before in human disorders.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Algoritmos / Empalme del ARN Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Animals / Humans Idioma: En Revista: Genes (Basel) Año: 2023 Tipo del documento: Article País de afiliación: Italia

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Algoritmos / Empalme del ARN Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Animals / Humans Idioma: En Revista: Genes (Basel) Año: 2023 Tipo del documento: Article País de afiliación: Italia