Clinical genetics · 2021
Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Costa Claudia Ismania Samogy, da Silva Montenegro Eduarda Morgana, Zarrei Mehdi, de Sá Moreira Eloísa, Silva Isabela Maya Wahys, de Oliveira Scliar Marília, Wang Jaqueline Yu Ting, Zachi Elaine Cristina, Branco Elisa Varella, da Costa Silvia Souza, Lourenço Naila Cristina Vilaça, Vianna-Morgante Angela Maria, Rosenberg Carla, Krepischi Ana Cristina Victorino, Scherer Stephen W, Passos-Bueno Maria Rita
Аннотация
Prediction of pathogenicity of rare copy number variations (CNVs), a genomic alteration known to contribute to the etiology of autism spectrum disorder (ASD), represents a serious limitation to interpreting genetic tests, particularly for genetic counseling purposes. Chromosomal microarray analysis (CMA) was conducted in a unique collection of 144 Brazilian individuals with ASD of strong European and African ancestries. Rare CNVs were detected in 39 patients: 41 of unknown significance (VUS), four pathogenic and one likely pathogenic CNVs (clinical yield of 4.1%; 5/122). Based on gene content and recurrence in three large cohorts [a Brazilian neurodevelopmental disorder cohort, the autism MSSNG cohort, and the Canadian-based Centre for Applied Genomics microarray database], this work strengthened the pathogenicity of 14 genes (FAT1, CAMK4, BIRC6, DPP6, CSMD1, CTNNA3, CDH8/CDH11, CDH13, OR1C1, CNTN6, CNTNAP4, FGF2 and PTPRN2) within 14 CNVs. Notably, enrichment of cell adhesion proteins to ASD etiology was identified (p < 0.05), highlighting the importance of these gene families in the etiology of ASD.