Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers
INTRODUCTION: Williams-Beuren syndrome (WBS; OMIM 194050) is caused by a hemizygous contiguous gene microdeletion at 7q11.23. Supravalvular aortic stenosis, mental retardation, overfriendliness, and ocular and renal abnormalities comprise typical symptoms in WBS. Although fluorescence in situ hybrid...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier España
2011-01-01
|
| Series: | Clinics |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1807-59322011000600007 |
| _version_ | 1811229361986076672 |
|---|---|
| author | Roberta Lelis Dutra Patrícia de Campos Pieri Ana Carolina Dias Teixeira Rachel Sayuri Honjo Debora Romeo Bertola Chong Ae Kim |
| author_facet | Roberta Lelis Dutra Patrícia de Campos Pieri Ana Carolina Dias Teixeira Rachel Sayuri Honjo Debora Romeo Bertola Chong Ae Kim |
| author_sort | Roberta Lelis Dutra |
| collection | DOAJ |
| description | INTRODUCTION: Williams-Beuren syndrome (WBS; OMIM 194050) is caused by a hemizygous contiguous gene microdeletion at 7q11.23. Supravalvular aortic stenosis, mental retardation, overfriendliness, and ocular and renal abnormalities comprise typical symptoms in WBS. Although fluorescence in situ hybridization is widely used for diagnostic confirmation, microsatellite DNA markers are considered highly informative and easily manageable. OBJECTIVES: This study aimed to test the microsatellite markers for the diagnosis of Williams-Beuren syndrome, to determine the size and parental origin of microdeletion, compare the clinical characteristics between patients with different sizes of the deletion and parental origin. METHODS: We studied 97 patients with clinical diagnosis of Williams-Beuren syndrome using five microsatellite markers: D7S1870, D7S489, D7S613, D7S2476 and D7S489_A. RESULTS AND DISCUSSION: Using five markers together, the result was informative in all patients. The most informative marker was D7S1870 (78.4%), followed by D7S613 (75.3%), D7S489 (70.1%) and D7S2476 (62.9%). The microdeletion was present in 84 (86.6%) patients and absent in 13 (13.4%) patients. Maternal deletions were found in 52.4% of patients and paternal deletions in 47.6% of patients. The observed size of deletions was 1.55 Mb in 76/ 84 patients (90.5%) and 1.84 Mb in 8/84 patients (9.5%). SVAS as well as ocular and urinary abnormalities were more frequent in the patients with a deletion. There were no clinical differences in relation to either the size or parental origin of the deletion. CONCLUSION: Using these five selected microsatellite markers was informative in all patients, thus can be considered an alternative method for molecular diagnosis in Williams-Beuren syndrome. |
| first_indexed | 2024-04-12T10:14:44Z |
| format | Article |
| id | doaj.art-957e1b1a0b8641c5bf117484b71e5237 |
| institution | Directory Open Access Journal |
| issn | 1807-5932 1980-5322 |
| language | English |
| last_indexed | 2024-04-12T10:14:44Z |
| publishDate | 2011-01-01 |
| publisher | Elsevier España |
| record_format | Article |
| series | Clinics |
| spelling | doaj.art-957e1b1a0b8641c5bf117484b71e52372022-12-22T03:37:14ZengElsevier EspañaClinics1807-59321980-53222011-01-0166695996410.1590/S1807-59322011000600007Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markersRoberta Lelis DutraPatrícia de Campos PieriAna Carolina Dias TeixeiraRachel Sayuri HonjoDebora Romeo BertolaChong Ae KimINTRODUCTION: Williams-Beuren syndrome (WBS; OMIM 194050) is caused by a hemizygous contiguous gene microdeletion at 7q11.23. Supravalvular aortic stenosis, mental retardation, overfriendliness, and ocular and renal abnormalities comprise typical symptoms in WBS. Although fluorescence in situ hybridization is widely used for diagnostic confirmation, microsatellite DNA markers are considered highly informative and easily manageable. OBJECTIVES: This study aimed to test the microsatellite markers for the diagnosis of Williams-Beuren syndrome, to determine the size and parental origin of microdeletion, compare the clinical characteristics between patients with different sizes of the deletion and parental origin. METHODS: We studied 97 patients with clinical diagnosis of Williams-Beuren syndrome using five microsatellite markers: D7S1870, D7S489, D7S613, D7S2476 and D7S489_A. RESULTS AND DISCUSSION: Using five markers together, the result was informative in all patients. The most informative marker was D7S1870 (78.4%), followed by D7S613 (75.3%), D7S489 (70.1%) and D7S2476 (62.9%). The microdeletion was present in 84 (86.6%) patients and absent in 13 (13.4%) patients. Maternal deletions were found in 52.4% of patients and paternal deletions in 47.6% of patients. The observed size of deletions was 1.55 Mb in 76/ 84 patients (90.5%) and 1.84 Mb in 8/84 patients (9.5%). SVAS as well as ocular and urinary abnormalities were more frequent in the patients with a deletion. There were no clinical differences in relation to either the size or parental origin of the deletion. CONCLUSION: Using these five selected microsatellite markers was informative in all patients, thus can be considered an alternative method for molecular diagnosis in Williams-Beuren syndrome.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1807-59322011000600007Williams-Beuren syndromemicrosatellite markersparental originsize deletionmolecular diagnosis |
| spellingShingle | Roberta Lelis Dutra Patrícia de Campos Pieri Ana Carolina Dias Teixeira Rachel Sayuri Honjo Debora Romeo Bertola Chong Ae Kim Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers Clinics Williams-Beuren syndrome microsatellite markers parental origin size deletion molecular diagnosis |
| title | Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers |
| title_full | Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers |
| title_fullStr | Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers |
| title_full_unstemmed | Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers |
| title_short | Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers |
| title_sort | detection of deletions at 7q11 23 in williams beuren syndrome by polymorphic markers |
| topic | Williams-Beuren syndrome microsatellite markers parental origin size deletion molecular diagnosis |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1807-59322011000600007 |
| work_keys_str_mv | AT robertalelisdutra detectionofdeletionsat7q1123inwilliamsbeurensyndromebypolymorphicmarkers AT patriciadecampospieri detectionofdeletionsat7q1123inwilliamsbeurensyndromebypolymorphicmarkers AT anacarolinadiasteixeira detectionofdeletionsat7q1123inwilliamsbeurensyndromebypolymorphicmarkers AT rachelsayurihonjo detectionofdeletionsat7q1123inwilliamsbeurensyndromebypolymorphicmarkers AT deboraromeobertola detectionofdeletionsat7q1123inwilliamsbeurensyndromebypolymorphicmarkers AT chongaekim detectionofdeletionsat7q1123inwilliamsbeurensyndromebypolymorphicmarkers |