TY - JOUR
T1 - Optic atrophy plus phenotype due to mutations in the OPA1 gene
T2 - Two more Italian families
AU - Ranieri, Michela
AU - Del Bo, Roberto
AU - Bordoni, Andreina
AU - Ronchi, Dario
AU - Colombo, Irene
AU - Riboldi, Giulietta
AU - Cosi, Alessandra
AU - Servida, Maura
AU - Magri, Francesca
AU - Moggio, Maurizio
AU - Bresolin, Nereo
AU - Comi, Giacomo P.
AU - Corti, Stefania
PY - 2012/4/15
Y1 - 2012/4/15
N2 - 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.
AB - 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.
KW - Autosomal Dominant Optic Atrophy
KW - Optic Atrophy 1 gene
KW - Splice-site mutations
UR - http://www.scopus.com/inward/record.url?scp=84857995528&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84857995528&partnerID=8YFLogxK
U2 - 10.1016/j.jns.2011.12.002
DO - 10.1016/j.jns.2011.12.002
M3 - Article
C2 - 22197506
AN - SCOPUS:84857995528
VL - 315
SP - 146
EP - 149
JO - Journal of the Neurological Sciences
JF - Journal of the Neurological Sciences
SN - 0022-510X
IS - 1-2
ER -