Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries
<p>Abstract</p> <p>Background</p> <p>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...
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| Format: | Article |
| Language: | English |
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BMC
2012-01-01
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| Series: | BMC Research Notes |
| Online Access: | http://www.biomedcentral.com/1756-0500/5/13 |
| _version_ | 1818211943559725056 |
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| author | Dutra Roberta L Honjo Rachel S Kulikowski Leslie D Fonseca Fernanda M Pieri Patrícia C Jehee Fernanda S Bertola Debora R Kim Chong A |
| author_facet | Dutra Roberta L Honjo Rachel S Kulikowski Leslie D Fonseca Fernanda M Pieri Patrícia C Jehee Fernanda S Bertola Debora R Kim Chong A |
| author_sort | Dutra Roberta L |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Background</p> <p>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.</p> <p>Results</p> <p>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.</p> <p>Conclusion</p> <p>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.</p> |
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| institution | Directory Open Access Journal |
| issn | 1756-0500 |
| language | English |
| last_indexed | 2024-12-12T05:40:32Z |
| publishDate | 2012-01-01 |
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| spelling | doaj.art-fbc006696f0f470cbf386e2997c3947e2022-12-22T00:35:56ZengBMCBMC Research Notes1756-05002012-01-01511310.1186/1756-0500-5-13Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countriesDutra Roberta LHonjo Rachel SKulikowski Leslie DFonseca Fernanda MPieri Patrícia CJehee Fernanda SBertola Debora RKim Chong A<p>Abstract</p> <p>Background</p> <p>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.</p> <p>Results</p> <p>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.</p> <p>Conclusion</p> <p>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.</p>http://www.biomedcentral.com/1756-0500/5/13 |
| spellingShingle | Dutra Roberta L Honjo Rachel S Kulikowski Leslie D Fonseca Fernanda M Pieri Patrícia C Jehee Fernanda S Bertola Debora R Kim Chong A Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries BMC Research Notes |
| title | Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries |
| title_full | Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries |
| title_fullStr | Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries |
| title_full_unstemmed | Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries |
| title_short | Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries |
| title_sort | copy number variation in williams beuren syndrome suitable diagnostic strategy for developing countries |
| url | http://www.biomedcentral.com/1756-0500/5/13 |
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