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

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• 作者：Michela Ranieri^a ; Roberto Del Bo^a ; Andreina Bordoni^a ; Dario Ronchi^a ; Irene Colombo^a ; Giulietta Riboldi^a ; Alessandra Cosi^a ; Maura Servida^a ; Francesca Magri^a ; Maurizio Moggio^a ; Nereo Bresolin^a ; ^b ; ^c ; Giacomo P. Comi^a ; ^b ; Stefania Corti^a ; ^b ; ^{stefania.corti@unimi.it}
• 关键词：Autosomal Dominant Optic Atrophy ; Optic Atrophy 1 gene ; Splice-site mutations
• 刊名：Journal of the Neurological Sciences
• 出版年：2012
• 期刊代码：178_0022510x
• 类别：med
• 出版时间：15 April, 2012
• 卷：315
• 期：1-2
• 页码：146-149
• 文件大小：538 K

摘要

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 鈥淥PA1 plus鈥?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.