Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries
| Autor: | Rachel Sayuri Honjo, Débora Romeo Bertola, Patrícia de Campos Pieri, Chong Ae Kim, Roberta Lelis Dutra, Fernanda Sarquis Jehee, Leslie Domenici Kulikowski, Fernanda M Fonseca |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2012 |
| Předmět: |
Oncology
medicine.medical_specialty Pathology congenital hereditary and neonatal diseases and abnormalities lcsh:Medicine General Biochemistry Genetics and Molecular Biology Internal medicine medicine Multiplex Copy-number variation Multiplex ligation-dependent probe amplification lcsh:Science (General) lcsh:QH301-705.5 Medicine(all) medicine.diagnostic_test Biochemistry Genetics and Molecular Biology(all) business.industry lcsh:R General Medicine Gold standard (test) Diagnostic strategy lcsh:Biology (General) Microsatellite business Supravalvular aortic stenosis Fluorescence in situ hybridization Research Article lcsh:Q1-390 |
| Zdroj: | BMC Research Notes, Vol 5, Iss 1, p 13 (2012) BMC Research Notes |
| ISSN: | 1756-0500 |
| Popis: | Background Williams-Beuren syndrome (WBS; OMIM 194050) is caused by a hemizygous contiguous gene microdeletion at 7q11.23. Supravalvular aortic stenosis (SVAS), mental retardation, and overfriendliness comprise typical symptoms of WBS. Although fluorescence in situ hybridization (FISH) is considered the gold standard technique, the microsatellite DNA markers and multiplex ligation-dependent probe amplification (MLPA) could be used for to confirm the diagnosis of WBS. Results We have evaluated a total cohort of 88 patients with a suspicion clinical diagnosis of WBS using a collection of five markers (D7S1870, D7S489, D7S613, D7S2476, and D7S489_A) and a commercial MLPA kit (P029). The microdeletion was present in 64 (72.7%) patients and absent in 24 (27.3%) patients. The parental origin of deletion was maternal in 36 of 64 patients (56.3%) paternal in 28 of 64 patients (43.7%). The deletion size was 1.55 Mb in 57 of 64 patients (89.1%) and 1.84 Mb in 7 of 64 patients (10.9%). The results were concordant using both techniques, except for four patients whose microsatellite markers were uninformative. There were no clinical differences in relation to either the size or parental origin of the deletion. Conclusion MLPA was considered a faster and more economical method in a single assay, whereas the microsatellite markers could determine both the size and parental origin of the deletion in WBS. The microsatellite marker and MLPA techniques are effective in deletion detection in WBS, and both methods provide a useful diagnostic strategy mainly for developing countries. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|