A Novel Tool for the Analysis and Detection of Copy Number Variants Associated with Haemoglobinopathies |
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Authors: | Anna Minaidou Stella Tamana Coralea Stephanou Maria Xenophontos Cornelis L. Harteveld Celeste Bento Marina Kleanthous Petros Kountouris |
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Affiliation: | 1.Molecular Genetics Thalassaemia Department, The Cyprus Institute of Neurology and Genetics, Nicosia 2371, Cyprus;2.Human and Clinical Genetics Department, Leiden University Medical Center, P.O. Box 9600, 2333 ZC Leiden, The Netherlands;3.Department of Haematology, Centro Hospitalar e Universitário de Coimbra, 3000-075 Coimbra, Portugal |
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Abstract: | Several types of haemoglobinopathies are caused by copy number variants (CNVs). While diagnosis is often based on haematological and biochemical parameters, a definitive diagnosis requires molecular DNA analysis. In some cases, the molecular characterisation of large deletions/duplications is challenging and inconclusive and often requires the use of specific diagnostic procedures, such as multiplex ligation-dependent probe amplification (MLPA). Herein, we collected and comprehensively analysed all known CNVs associated with haemoglobinopathies. The dataset of 291 CNVs was retrieved from the IthaGenes database and was further manually annotated to specify genomic locations, breakpoints and MLPA probes relevant for each CNV. We developed IthaCNVs, a publicly available and easy-to-use online tool that can facilitate the diagnosis of rare and diagnostically challenging haemoglobinopathy cases attributed to CNVs. Importantly, it facilitates the filtering of available entries based on the type of breakpoint information, on specific chromosomal and locus positions, on MLPA probes, and on affected gene(s). IthaCNVs brings together manually curated information about CNV genomic locations, functional effects, and information that can facilitate CNV characterisation through MLPA. It can help laboratory staff and clinicians confirm suspected diagnosis of CNVs based on molecular DNA screening and analysis. |
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Keywords: | haemoglobinopathies copy number variants (CNVs) MLPA |
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