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Optic atrophy plus phenotype due to mutations in the OPA1 gene: Two more Italian families  Michela Ranieri, Roberto Del Bo, Andreina Bordoni, Dario Ronchi,

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Presentation on theme: "Optic atrophy plus phenotype due to mutations in the OPA1 gene: Two more Italian families  Michela Ranieri, Roberto Del Bo, Andreina Bordoni, Dario Ronchi,"— Presentation transcript:

1 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  Journal of the Neurological Sciences  Volume 315, Issue 1, Pages (April 2012) DOI: /j.jns Copyright © 2011 Elsevier B.V. Terms and Conditions

2 Fig. 1 Pedigrees of the described families. Black symbols indicate affected subjects. The described probands are indicated by arrows. Journal of the Neurological Sciences  , DOI: ( /j.jns ) Copyright © 2011 Elsevier B.V. Terms and Conditions

3 Fig. 2 (A) PCR analysis of muscle-derived mtDNA showing the presence of multiple deleted mitochondrial genomes in Patient 1. Controls are age-matched muscle biopsies. (B) Sequence analysis of OPA1 gene in Patient 1 disclosing the microdeletion c _2921del at genomic and transcript level. PCR fragments obtained using genomic DNA as a template were subcloned to discriminate between mutated and wildtype alleles. (C) Sequence analysis of OPA1 gene in Family 2 discloses the point mutation c.985-2A>G in affected members. This substitution results in the skipping of exon 10 as showed by electrophoresis on agarose gel of RT-PCR fragments and sequence analysis of cDNA clones. Journal of the Neurological Sciences  , DOI: ( /j.jns ) Copyright © 2011 Elsevier B.V. Terms and Conditions

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