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Modelo de Resumo

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Título: Williams-Beuren Syndrome: case collections in a diagnostic center from Goiás Public Health

Autores: PEREIRA, SSS^1,3; RIBEIRO, CL³; CUNHA, DMC³; CRUZ, AS^1,3; CRUZ, AD^1,2,3; MINASI, LB^1,3; SILVA, CC ^1,2,3

Instituição: 

¹Programa de Pós Graduação Mestrado em Genética – Pontifícia Universidade Católica de Goiás.

²Laboratório de Citogenética Humana e Genética Molecular do Laboratório de Saúde Pública Dr. Giovanni Cysneiros da Secretaria de Estado da Saúde do Estado de Goiás.

³Núcleo de Pesquisas Replicon da Escola de Ciências Agrárias e Biológicas da Pontifícia Universidade Católica de Goiás.

E-mail: samarasocorrosilva@hotmail.com

Palavra-chave: Keywords: Molecular Cytogenetics, Microdeletion, FISH

Resumo: 

The Williams-Beuren syndrome (WBS) (MIM 194050) is a neurodevelopmental disorder characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features, and cardiovascular abnormalities. The most commonly occurring cardiac abnormalities are supravalvular aortic stenosis and peripheral pulmonary stenosis. Is estimated that affects 1 in 7.500 to 1 in 20.000 individuals. WBS is caused by hemizygous microdeletion of 1.5 to 1.8 Mb on chromosome 7q11.23, which  encompasses approximately 28 genes including the elastin gene (ELN) and a commonly genetic testing for diagnose is Fluorescent in situ hybridization (FISH). The aim of the study was report the results of a collection of patients who were referred to genetic service at Laboratory of Human Cytogenetic and Molecular Genetics and the Biology Department at Pontifical Catholic University in Central Brazil. Fluorescent in situ hybridization (FISH) was performed using commercial Williams Syndrome Region probes encompassing ELN gene. The probe 7q11.23, labeled in red, consists of three non-overlapping clones, which cover much of the deletion region. The probe mix also contains a control probe for the 7 centromere (D7Z1) labeled in green (Cytocell, USA). Chromosomes were counterstained with 4,6-diamino-2-phenyl-indole (DAPI). Capture and analysis of metaphases and interphase nuclei were released by Epifluorescence Microscope (Carl Zeiss, Germany) and the software ISIS® (Metasystems Corporation, Germany). Since 1998 to June of 2016 the laboratory received 3464 patients with different clinical indications. Of these, only 12 patients were referred to the indication for WBS, 8/12 (66.67%) are male and 4/12 (33.33%) females, and the average of age was 6.8 years old. Only 3/12 (25%) of patients referred for WBS presented a unique fluorescent signal for 7q11.23 region, so it is possible to conclude that this region is deleted and the absence of a signal is associated with WBS. A similar study evaluated 20 patients with phenotypic characteristics for WBS and observed 17% of results with only one fluorescent signal for 7q11.23 region. Clinical diagnostic criteria are available for Williams syndrome, however, the mainstay for diagnosis is detection of the contiguous gene deletion of the WBS critical region that encompasses the ELN gene. More than 99% of individuals with the clinical diagnosis of WBS have this contiguous gene deletion, which can be detected using FISH and/or deletion/duplication testing. FISH is useful to detect the critical region on the contrary could result in a false negative. Therefore, it is important for these cases, whose phenotype is characteristic for WBS, carry out other diagnostic methodologies as microarray analysis allowing to distinguish WBS from other syndromes that include developmental delay, short stature, distinctive facies, and congenital heart disease.

Fontes de Financiamento: Financial Support: FAPEG, CNPq