Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/3663
Título: Small Deletion of 143 Kb Encompassing Exon 2 of the AUTS2: Rise of a NewMicrodeletion Syndrome?
Autor: Serafim, Silvia
Marques, Barbara
Filomena, Brito
Pedro, Sónia
Ferreira, Cristina
Ventura, Catarina
Gaspar, Isabel
Correia, Hildeberto
Palavras-chave: AUTS2
Small Deletion
Microdeletion Syndrome
Doenças Genéticas
Data: 1-Jul-2015
Resumo: 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.
Descrição: Abstract publicado em: Chromosome Res. 2015 Jun;23 Suppl 1:35-36. doi: 10.1007/s10577-015-9476-6.
Peer review: yes
URI: http://hdl.handle.net/10400.18/3663
Aparece nas colecções:DGH - Posters/abstracts em congressos internacionais

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Serafim S et all. ECA2015.pdf51,09 kBAdobe PDFVer/Abrir
Serafim S et all_ECA2015.pdf981,52 kBAdobe PDFVer/Abrir

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