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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers

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Author(s):
Dutra, Roberta Lelis [1, 2] ; Pieri, Patricia de Campos [2] ; Dias Teixeira, Ana Carolina [2] ; Honjo, Rachel Sayuri [1] ; Bertola, Debora Romeo [1] ; Kim, Chong Ae [1]
Total Authors: 6
Affiliation:
[1] Univ Sao Paulo, Fac Med, Inst Crianca, Unidade Genet Clin, Sao Paulo - Brazil
[2] Univ Sao Paulo, Fac Med, Inst Crianca, Lab Invest Pediat Clin LIM 36, Sao Paulo - Brazil
Total Affiliations: 2
Document type: Journal article
Source: Clinics; v. 66, n. 6, p. 959-964, 2011.
Web of Science Citations: 14
Abstract

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. (AU)