Abstract publicado em: Chromosome Res. 2015 Jun;23 Suppl 1:35-36. doi: 10.1007/s10577-015-9476-6.Chromosome microarray analysis is a powerful diagnostic tool and is being used as a first-line approach to detect chromosome imbalances associated with intellectual disability, dysmorphic features and congenital
anomalies. This test enables the identification of new copy number variants (CNVs) and their association with new microdeletion/microduplication syndromes in patients previously without diagnosis.
Here we report the case of a 17 year-old female with severe intellectual disability, absence of speech, microcephaly and congenital abnormalities with a previous normal karyotype performed at a younger age. Affymetrix CytoScan HD chromosome microarray analysis was performed detecting a 143 Kb deletion at
the 7q11.22 breakpoint, encompassing exon 2 of AUTS2 gene: arr[hg19] 7q11.22(69238957-
69381975)×1. The AUTS2 gene has been recently implicated in neurodevelopment and is a candidate gene for numerous neurological disorders. Common clinical features described in patients with deletions in AUTS2 gene include intellectual disability, speech delay and microcephaly, among others. Thus, the CNV identified in our patient explains the phenotype observed. We compare our patient with other similar reported cases, adding additional value to the phenotypegenotype correlation of deletions in this region. The growing collection of new cases with similar phenotypes, and the observation of this deletion occurring frequently de novo, indicates this CNV as a possible new single gene microdeletion syndrome
