Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy
نویسندگان
چکیده
منابع مشابه
Identification of two novel OPA1 mutations in Chinese families with autosomal dominant optic atrophy
PURPOSE To report the clinical features and identification of two novel mutations in two Chinese pedigrees with autosomal dominant optic atrophy (ADOA). METHODS Two families (F1 and F2) including ten affected members and nine unaffected family individuals were examined clinically. After informed consent was obtained, peripheral blood samples of all the participants were obtained, and genomic ...
متن کاملOPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance.
We and others have shown recently that mutations in the OPA1 gene encoding a dynamin-related mitochondrial protein cause autosomal dominant optic atrophy (ADOA) linked to chromosome 3q28-q29. Here we report screening of the OPA1 gene in a sample of 78 independent ADOA families. OPA1 mutations were identified in 25 patients (detection rate 32.1%) including 16 novel mutations. We successfully amp...
متن کاملA comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy.
PURPOSE To characterize the spectrum of mutations in the OPA1 gene in a large international panel of patients with autosomal dominant optic atrophy (adOA), to improve understanding of the range of functional deficits attributable to sequence variants in this gene, and to assess any genotype-phenotype correlations. METHODS All 28 coding exons of OPA1, intron-exon splice sites, 273 bp 5' to exo...
متن کاملReduction of inner retinal thickness in patients with autosomal dominant optic atrophy associated with OPA1 mutations.
PURPOSE To determine the morphologic changes in the retina in the macula and around the optic disc in patients with autosomal dominant optic atrophy (ADOA) associated with a mutation in the OPA1 gene. METHODS Cross-sectional images of the macular area of the retina were obtained by optical coherence tomography (OCT) in patients with ADOA who had a heterozygous mutation in the OPA1 gene. There...
متن کاملNonsyndromic Parkinson disease in a family with autosomal dominant optic atrophy due to OPA1 mutations
Many genes implicated in familial Parkinson disease (PD) code for proteins with mitochondrial function. Several of these genes, including PINK1 and PARK2, are involved in mitophagy, a mitochondrial quality control pathway. We describe a family with 3 members affected by autosomal dominant optic atrophy in which 2 affected members also developed PD. While the role of mitophagy-related genes in P...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 2003
ISSN: 1059-7794
DOI: 10.1002/humu.9152