Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy
نویسندگان
چکیده
منابع مشابه
Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.
Dominant optic atrophy (DOA) is the commonest form of inherited optic neuropathy. Although heterogeneous, a major locus has been mapped to chromosome 3q28 and the gene responsible, OPA1, was recently identified. We therefore screened a panel of 35 DOA patients for mutations in OPA1. This revealed 14 novel mutations and a further three known mutations, which together accounted for 20 of the 35 f...
متن کاملNot only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations
BACKGROUND Heterozygous mutations in OPA1 are a common cause of autosomal dominant optic atrophy, sometimes associated with extra-ocular manifestations. Few cases harboring compound heterozygous OPA1 mutations have been described manifesting complex neurodegenerative disorders in addition to optic atrophy. RESULTS We report here three patients: one boy showing an early-onset mitochondrial dis...
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 کاملIdentification 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 کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2001
ISSN: 1460-2083
DOI: 10.1093/hmg/10.13.1369