Optic atrophy plus phenotype due to mutations in the OPA1 gene: Two more Italian families

Michela Ranieri, Roberto Del Bo, Andreina Bordoni, Dario Ronchi, Irene Colombo, Giulietta Riboldi, Alessandra Cosi, Maura Servida, Francesca Magri, Maurizio Moggio, Nereo Bresolin, Giacomo P. Comi, Stefania Corti

Research output: Contribution to journalArticle

Abstract

Autosomal Dominant Optic Atrophy (ADOA) is characterized by the selective degeneration of retinal ganglion cells. The occurrence of mutations in the gene encoding the dynamin-like GTPase protein Optic Atrophy 1 (OPA1) has been observed in about 60-70% of ADOA cases. A subset of missense mutations, mostly within the GTPase domain, has recently been associated with a syndromic ADOA form called "OPA1 plus" phenotype presenting, at muscle level, mitochondrial DNA (mtDNA) instability. In this study we disclosed two OPA1 gene mutations in independent probands from two families affected by OPA1 plus phenotype: the previously reported c.985-2A > G substitution and a novel microdeletion (c.2819-1-2821del). The correlation between genotype and phenotype and the effects of these variants at the transcript level and in the muscle tissue were investigated, confirming the broad complexity in the phenotypic spectrum associated with these OPA1 mutations.

Original languageEnglish
Pages (from-to)146-149
Number of pages4
JournalJournal of the Neurological Sciences
Volume315
Issue number1-2
DOIs
Publication statusPublished - Apr 15 2012

Keywords

  • Autosomal Dominant Optic Atrophy
  • Optic Atrophy 1 gene
  • Splice-site mutations

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

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