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.

Optic atrophy plus phenotype due to mutations in the OPA1 gene: two more Italian families / M. Ranieri, R. Del Bo, A. Bordoni, D. Ronchi, I. Colombo, G. Riboldi, A. Cosi, M. Servida, F. Magri, M. Moggio, N. Bresolin, G.P. Comi, S. Corti. - In: JOURNAL OF THE NEUROLOGICAL SCIENCES. - ISSN 0022-510X. - 315:1-2(2012 Apr 15), pp. 146-149.

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

M. Ranieri
Primo
;
R. Del Bo
Secondo
;
A. Bordoni;D. Ronchi;I. Colombo;G. Riboldi;A. Cosi;F. Magri;N. Bresolin;G.P. Comi
Penultimo
;
S. Corti
2012-04-15

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.
Autosomal Dominant Optic Atrophy; Optic Atrophy 1 gene; Splice-site mutations
Settore MED/26 - Neurologia
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/179555
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