Genomic deletions in <it>OPA1 </it>in Danish patients with autosomal dominant optic atrophy

• Main Authors: Larsen Michael (Author), Milea Dan (Author), Grønskov Karen (Author), Almind Gitte J (Author), Brøndum-Nielsen Karen (Author), Ek Jakob (Author)
• Format: Book
• Published: BMC, 2011-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Summary

<p>Abstract</p> <p>Background</p> <p>Autosomal dominant optic atrophy (ADOA, Kjer disease, MIM #165500) is the most common form of hereditary optic neuropathy. Mutations in <it>OPA1 </it>located at chromosome 3q28 are the predominant cause for ADOA explaining between 32 and 89% of cases. Although deletions of <it>OPA1 </it>were recently reported in ADOA, the frequency of <it>OPA1 </it>genomic rearrangements in Denmark, where ADOA has a high prevalence, is unknown. The aim of the study was to identify copy number variations in <it>OPA1 </it>in Danish ADOA patients.</p> <p>Methods</p> <p>Forty unrelated ADOA patients, selected from a group of 100 ADOA patients as being negative for <it>OPA1 </it>point mutations, were tested for genomic rearrangements in <it>OPA1 </it>by multiplex ligation probe amplification (MLPA). When only one probe was abnormal results were confirmed by additional manually added probes. Segregation analysis was performed in families with detected mutations when possible.</p> <p>Results</p> <p>Ten families had <it>OPA1 </it>deletions, including two with deletions of the entire coding region and eight with intragenic deletions. Segregation analysis was possible in five families, and showed that the deletions segregated with the disease.</p> <p>Conclusion</p> <p>Deletions in the <it>OPA1 </it>gene were found in 10 patients presenting with phenotypic autosomal dominant optic neuropathy. Genetic testing for deletions in <it>OPA1 </it>should be offered for patients with clinically diagnosed ADOA and no <it>OPA1 </it>mutations detected by DNA sequencing analysis.</p>

Item Description

10.1186/1471-2350-12-49
1471-2350