Small Deletion of 143 Kb Encompassing Exon 2 of the AUTS2: Rise of a NewMicrodeletion Syndrome?

Serafim, Silvia; Marques, Barbara; Filomena, Brito; Pedro, Sónia; Ferreira, Cristina; Ventura, Catarina; Gaspar, Isabel; Correia, Hildeberto

Publication

Small Deletion of 143 Kb Encompassing Exon 2 of the AUTS2: Rise of a NewMicrodeletion Syndrome?

2015-07-01Conference object

dc.contributor.author	Serafim, Silvia
dc.contributor.author	Marques, Barbara
dc.contributor.author	Filomena, Brito
dc.contributor.author	Pedro, Sónia
dc.contributor.author	Ferreira, Cristina
dc.contributor.author	Ventura, Catarina
dc.contributor.author	Gaspar, Isabel
dc.contributor.author	Correia, Hildeberto
dc.date.accessioned	2016-03-04T17:09:21Z
dc.date.available	2016-03-04T17:09:21Z
dc.date.issued	2015-07-01
dc.description	Abstract publicado em: Chromosome Res. 2015 Jun;23 Suppl 1:35-36. doi: 10.1007/s10577-015-9476-6.	pt_PT
dc.description.abstract	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.	pt_PT
dc.identifier.uri	http://hdl.handle.net/10400.18/3663
dc.language.iso	eng	pt_PT
dc.peerreviewed	yes	pt_PT
dc.subject	AUTS2	pt_PT
dc.subject	Small Deletion	pt_PT
dc.subject	Microdeletion Syndrome	pt_PT
dc.subject	Doenças Genéticas	pt_PT
dc.title	Small Deletion of 143 Kb Encompassing Exon 2 of the AUTS2: Rise of a NewMicrodeletion Syndrome?	pt_PT
dc.type	conference object
dspace.entity.type	Publication
oaire.citation.conferencePlace	Strasbourg, França	pt_PT
oaire.citation.title	10th European Cytogenetics Conference, 4-7 July 2015	pt_PT
rcaap.rights	openAccess	pt_PT
rcaap.type	conferenceObject	pt_PT