Please use this identifier to cite or link to this item: https://doi.org/10.1186/1471-2350-12-49
Title: Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy
Authors: Almind, G.J
Grønskov, K
Milea, D 
Larsen, M
Brøndum-Nielsen, K
Ek, J
Keywords: adult
article
autosomal dominant optic atrophy
chromosome rearrangement
clinical article
Denmark
DNA sequence
family
gene deletion
gene mutation
genetic screening
genome
human
male
multiplex ligation dependent probe amplification
phenotype
point mutation
prevalence
segregation analysis
adolescent
Caucasian
child
copy number variation
female
gene duplication
gene locus
genetics
human genome
middle aged
pathology
pathophysiology
pedigree
guanosine triphosphatase
OPA1 protein, human
Adolescent
Adult
Child
Denmark
DNA Copy Number Variations
European Continental Ancestry Group
Female
Gene Duplication
Genetic Loci
Genome, Human
GTP Phosphohydrolases
Humans
Male
Middle Aged
Optic Atrophy, Autosomal Dominant
Pedigree
Sequence Deletion
Young Adult
Issue Date: 2011
Citation: Almind, G.J, Grønskov, K, Milea, D, Larsen, M, Brøndum-Nielsen, K, Ek, J (2011). Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy. BMC Medical Genetics 12 : 49. ScholarBank@NUS Repository. https://doi.org/10.1186/1471-2350-12-49
Rights: Attribution 4.0 International
Abstract: Background: Autosomal dominant optic atrophy (ADOA, Kjer disease, MIM #165500) is the most common form of hereditary optic neuropathy. Mutations in OPA1 located at chromosome 3q28 are the predominant cause for ADOA explaining between 32 and 89% of cases. Although deletions of OPA1 were recently reported in ADOA, the frequency of OPA1 genomic rearrangements in Denmark, where ADOA has a high prevalence, is unknown. The aim of the study was to identify copy number variations in OPA1 in Danish ADOA patients.Methods: Forty unrelated ADOA patients, selected from a group of 100 ADOA patients as being negative for OPA1 point mutations, were tested for genomic rearrangements in OPA1 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.Results: Ten families had OPA1 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.Conclusion: Deletions in the OPA1 gene were found in 10 patients presenting with phenotypic autosomal dominant optic neuropathy. Genetic testing for deletions in OPA1 should be offered for patients with clinically diagnosed ADOA and no OPA1 mutations detected by DNA sequencing analysis. © 2011 Almind et al; licensee BioMed Central Ltd.
Source Title: BMC Medical Genetics
URI: https://scholarbank.nus.edu.sg/handle/10635/181638
ISSN: 14712350
DOI: 10.1186/1471-2350-12-49
Rights: Attribution 4.0 International
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