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| Linhares,Natália Duarte; Freire,Maíra Cristina Menezes; Cardenas,Raony Guimarães Corrêa do Carmo Lisboa; Pena,Heloisa Barbosa; Lachlan,Katherine; Dallapiccola,Bruno; Bacino,Carlos; Delobel,Bruno; James,Paul; Thuresson,Ann-Charlotte; Annerén,Göran; Pena,Sérgio D. J.. |
| Abstract Deletion-induced hemizygosity may unmask deleterious autosomal recessive variants and be a cause of the phenotypic variability observed in microdeletion syndromes. We performed complete exome sequencing (WES) analysis to examine this possibility in a patient with 1p13.2 microdeletion. Since the patient displayed clinical features suggestive of Noonan Syndrome (NS), we also used WES to rule out the presence of pathogenic variants in any of the genes associated with the different types of NS. We concluded that the clinical findings could be attributed solely to the 1p13.2 haploinsufficiency. Retrospective analysis of other nine reported patients with 1p13.2 microdeletions showed that six of them also presented some characteristics of NS. In all... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: 1p13.2 deletion; Noonan syndrome type 6; NRAS gene; RASopathy; Unmasking heterozygosity. |
| Ano: 2016 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000300349 |
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