Phenotype comparison among individuals with developmental delay/intellectual disability with or without genomic imbalances

Autor(es)

de Souza, L. C. ^[1] ; dos Santos, A. P. ^[1] ; Sgardioli, I. C. ^[1] ; Viguetti-Campos, N. L. ^[1] ; Marques Prota, J. R. ^[1] ; de Oliveira-Sobrinho, R. P. ^[1] ; Vieira, T. P. ^[1] ; Gil-da-Silva-Lopes, V. L. ^[1]

Afiliação do(s) autor(es)

^[1] State Univ Campinas UNICAMP, Fac Med Sci, Dept Med Genet, Tessalia Vieira de Camargo St 126, BR-13083887 Campinas, SP - Brazil

• Tipo de documento: Artigo Científico
• Fonte: JOURNAL OF INTELLECTUAL DISABILITY RESEARCH; v. 63, n. 11, p. 1379-1389, NOV 2019.
• Citações Web of Science: 0

Resumo

Background The chromosomal microarray analysis (CMA) is recommended as a first-tier test for individuals with developmental delay (DD)/intellectual disability (ID) and/or multiple congenital anomalies. However, owing to high costs, this technique is not widely performed for diagnostic purposes in several countries. The aim of this study was to identify clinical features that could favour the hypothesis of genomic imbalances (GIs) in individuals with DD/ID. Methods The sample consisted of 63 individuals, and all of them underwent a detailed evaluation by a clinical geneticist and were investigated by the CMA. They were divided into two groups. Group A composed of 20 individuals with pathogenic copy number variants (CNVs); and group B composed of 43 individuals with normal CMA results or variants of uncertain clinical significance (VUS). Results Pathogenic GIs were found in 20 cases (32%), including 11 individuals with an abnormal karyotype, VUS was found in five individuals (8%) and the results were normal in 38 individuals (60%). Major anomalies were found in 15/20 (75%) individuals in group A against 35/43 (81%) in group B. Dysmorphisms (>= 5) were found in 17/20 (85%) in group A and 41/43 (95%) in group B. The most frequent major anomalies detected in group A were congenital heart disease, epilepsy and renal malformation; and in group B, they were malformations of central nervous system, congenital heart disease, microcephaly, epilepsy and hearing impairment. There was no significant statistical difference among the frequencies in groups A and B. Conclusions Evidences point that every individual with DD/ID, with no specific clinical suspicion, should have screening for GIs as a first-tier test, regardless of the presence or absence of additional major anomalies or dysmorphisms. Future studies with a similar design would be helpful, especially in countries where the access to new technologies is still limited. (AU)

• Processo FAPESP: 12/51799-6 - Consolidação de estratégia multicêntrica em genética para base de dados clínicos e investigação diagnóstica de fendas orofaciais
• Beneficiário: Vera Lúcia Gil da Silva Lopes
• Modalidade de apoio: Auxílio à Pesquisa - Pesquisa em Políticas Públicas para o SUS