Authors: Tetsuya Hamahata Takuro Fujimaki Keiko Fujiki Ai Miyazaki Atsushi Mizota Akira Murakami
Publish Date: 2011/11/01
Volume: 56, Issue: 1, Pages: 91-97
Abstract
DNA was extracted from the leukocytes of the peripheral blood For mtDNA mutations were examined at positions 11778 3460 and 14484 For the OPA1 gene the exons were amplified by PCR and mutations were detected by restriction enzymes or the dye terminator methodWe detected three types of OPA1 mutation but no mtDNA mutations In the OPA1 gene heterozygous frameshift mutations from codon 903 due to a fourbase pair deletion in exon 27 were detected in three patients from one family c2708 2711delTTAG pV903GfsX905 A heterozygous mutation due to a threebase pair deletion in exon 17 leading to a oneamino acid deletion c1618 1620delACT pT540del and a heterozygous mutation due to a onebase substitution in exon 11 leading to a stop codon c1084GT pE362X were detected in sporadic casesOPA1 mutations existed in three Japanese families with ADOA After a detailed clinical assessment of the proband the screening of the OPA1 gene may be helpful for precise diagnosis of ADOA provided the relevant information of the family members is limitedThis study was supported in part by a Grant in Aid no 20261901 from the Research Grant from the Study Group on Chorioretinal Degeneration and Optic Atrophy The Ministry of Health Labor and Welfare Japan The authors indicate no financial conflict of interest The authors thank Dr Miyuki Yoshikawa for the patients she introduced to this study
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