title: Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA.
abstract: Williams-Beuren syndrome (WBS) is a genetic disease caused by a microdeletion in the 7q11.23 region. It is characterized by congenital heart disease, mainly supravalvular aortic stenosis, mental retardation, mild short stature, facial dysmorphisms, and variable abnormalities in different systems. Objectives. To report the clinical findings of 55 Brazilian patients confirmed by multiplex ligation-dependent probe amplification (MLPA). Methods. Patients were followed up for 4 years at the Genetics Unit of the Instituto da Criança of the Hospital das Clínicas, FMUSP, Brazil. A kit specific for WBS was used to detect the 7q11.23 microdeletion. Results. Two patients with negative FISH results had positive MLPA results for WBS. The characteristics of the patients with the deletion were as follows: typical WBS facies (98.2%), neuropsychomotor delay (98.2%), hypersocial behavior (94.5%), hyperacusis (94.5%), and congenital heart disease (81.8%). Conclusions. MLPA was effective in detecting the microdeletion in the 7q11.23 region to confirm the diagnosis of WBS. MLPA was also able to confirm the diagnosis of WBS in two patients with typical clinical characteristics but negative FISH results. Thus, MLPA is a promising method in the diagnostic investigation of WBS. WBS is a multisystemic disorder and therefore requires multidisciplinary care and specific follow-up to prevent complications.
authors.affiliation: Clinical Genetics Unit, Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, 05403-000 São Paulo, SP, Brazil.
authors.forename: Rachel Sayuri
authors.initials: RS
authors.lastname: Honjo
authors.affiliation: Department of Pathology, Laboratório de Citogenômica, LIM 03, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, 05403-000 São Paulo, SP, Brazil.
authors.forename: Roberta Lelis
authors.initials: RL
authors.lastname: Dutra
authors.affiliation: Department of Nephrology, Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, 05403-000 São Paulo, SP, Brazil.
authors.forename: Erika Arai
authors.initials: EA
authors.lastname: Furusawa
authors.affiliation: Department of Pathology, Laboratório de Citogenômica, LIM 03, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, 05403-000 São Paulo, SP, Brazil.
authors.forename: Evelin Aline
authors.initials: EA
authors.lastname: Zanardo
authors.affiliation: Clinical Genetics Unit, Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, 05403-000 São Paulo, SP, Brazil.
authors.forename: Larissa Sampaio de Athayde
authors.initials: LS
authors.lastname: Costa
authors.affiliation: Department of Pathology, Laboratório de Citogenômica, LIM 03, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, 05403-000 São Paulo, SP, Brazil.
authors.forename: Leslie Domenici
authors.initials: LD
authors.lastname: Kulikowski
authors.affiliation: Clinical Genetics Unit, Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, 05403-000 São Paulo, SP, Brazil.
authors.forename: Debora Romeo
authors.initials: DR
authors.lastname: Bertola
authors.affiliation: Clinical Genetics Unit, Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, 05403-000 São Paulo, SP, Brazil.
authors.forename: Chong Ae
authors.initials: CA
authors.lastname: Kim
mesh_terms: D000293:Adolescent; D000328:Adult; D001938:Brazil; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D060885:Multiplex Polymerase Chain Reaction; D010641:Phenotype; D018980:Williams Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology