title: Optic atrophy plus phenotype due to mutations in the OPA1 gene: two more Italian families.
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.
authors.affiliation: Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: Michela
authors.initials: M
authors.lastname: Ranieri
authors.forename: Roberto
authors.initials: R
authors.lastname: Del Bo
authors.forename: Andreina
authors.initials: A
authors.lastname: Bordoni
authors.forename: Dario
authors.initials: D
authors.lastname: Ronchi
authors.forename: Irene
authors.initials: I
authors.lastname: Colombo
authors.forename: Giulietta
authors.initials: G
authors.lastname: Riboldi
authors.forename: Alessandra
authors.initials: A
authors.lastname: Cosi
authors.forename: Maura
authors.initials: M
authors.lastname: Servida
authors.forename: Francesca
authors.initials: F
authors.lastname: Magri
authors.forename: Maurizio
authors.initials: M
authors.lastname: Moggio
authors.forename: Nereo
authors.initials: N
authors.lastname: Bresolin
authors.forename: Giacomo P
authors.initials: GP
authors.lastname: Comi
authors.forename: Stefania
authors.initials: S
authors.lastname: Corti
mesh_terms: D000293:Adolescent; D019943:Amino Acid Substitution / Q000235:genetics; D002648:Child; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009896:Optic Atrophy / Q000175:diagnosis* / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype
chemical_list: D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human