Abstract

Atrial septal defect (ASD) is a congenital heart defect characterized by an opening in the atrial septum. About 1/3 of patients with Noonan syndrome caused by mutation in the PTPN11 gene have ASD. The prevalence of ASD is estimated at 100 per 100,000 live births. ASD may have autosomal dominant or recessive inheritance. This Utility Gene Test was prepared on the basis of an analysis of the literature and existing diagnostic protocols. It is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.

Details

Title
Genetic testing for atrial septal defect
Author
Rakhmanov, Yeltay 1 ; Maltese, Paolo Enrico 1 ; Zulian, Alessandra 2 ; Beccari, Tommaso 3 ; Dundar, Munis 4 ; Bertelli, Matteo 5 

 MAGI’s Lab, Rovereto, Italy 
 MAGI Euregio, Bolzano, Italy 
 Department of Pharmaceutical Sciences, University of Perugia, Perugia, Italy 
 Department of Medical Genetics, Erciyes University Medical School, Kayseri, Turkey 
 MAGI’s Lab, Rovereto, Italy; MAGI Euregio, Bolzano, Italy 
Pages
45-47
Publication year
2018
Publication date
2018
Publisher
De Gruyter Poland
e-ISSN
2564615X
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
3156325005
Copyright
© 2018. This work is published under http://creativecommons.org/licenses/by-nc-nd/3.0 (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.