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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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 146-149 (April 2012) DOI: 10.1016/j.jns.2011.12.002 Copyright © 2011 Elsevier B.V. Terms and Conditions

Fig. 1 Pedigrees of the described families. Black symbols indicate affected subjects. The described probands are indicated by arrows. Journal of the Neurological Sciences 2012 315, 146-149DOI: (10.1016/j.jns.2011.12.002) Copyright © 2011 Elsevier B.V. Terms and Conditions

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.2819-1_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 2012 315, 146-149DOI: (10.1016/j.jns.2011.12.002) Copyright © 2011 Elsevier B.V. Terms and Conditions