Journal article
1p13.2 deletion displays clinical features overlapping noonan syndrome, likely related to NRAS gene haploinsufficiency
ND Linhares, MCM Freire, RGCDCL Cardenas, HB Pena, K Lachlan, B Dallapiccola, C Bacino, B Delobel, P James, AC Thuresson, G Annerén, SDJ Pena
Genetics and Molecular Biology | SOC BRASIL GENETICA | Published : 2016
Open access
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 th..
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Funding Acknowledgements
The authors are grateful to the patients and their family for their precious cooperation in this study. We thank Dr. Sergio Pereira of The Centre for Applied Genomics, The Hospital for Sick Children (Toronto, Canada) for assistance with exome data interpretation. This work was supported by FAPEMIG grant to SDJP (process CDS-30/11). MCMF and RGCCLC were supported by a fellowship from CAPES and NDL was supported by a fellowship from CNPq. This study makes use of data generated by the DECIPHER Consortium. A full list of centres that contributed to the generation of the data is available from the website and via email from decipher@sanger.ac.uk. Funding for the DECIPHER project was provided by the Wellcome Trust.