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Two novel variants in the TCF12 gene identified in cases with craniosynostosis

Authors Goumenos A, Tsoutsou E, Traeger-Synodinos J, Petychakis D, Gavra M, Kolialexi A, Frysira H

Received 14 October 2018

Accepted for publication 20 December 2018

Published 12 February 2019 Volume 2019:12 Pages 19—25


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 2

Editor who approved publication: Prof. Dr. Martin H. Maurer

Athanasios Goumenos,1 Eirini Tsoutsou,1 Joanne Traeger-Synodinos,1 Dimitrios Petychakis,1,2 Maria Gavra,3 Aggeliki Kolialexi,1 Helena Frysira1

1Choremio Research Laboratory, Department of Medical Genetics, Faculty of Medicine, National and Kapodistrian University of Athens, Athens, Greece; 2Department of Pediatric Haematology-Oncology, Agia Sophia Children’s Hospital, Athens, Greece; 3CT, MRI & PET/CT Department, Agia Sophia Children’s Hospital, Athens, Greece

Abstract: Craniosynostosis (CS) is a condition where one or more of the cranial sutures fuse prematurely. It affects almost 1/2,000 newborns, and includes both syndromic and non-syndromic cases. To date, variants in over 70 different genes have been associated with the expression of CS. In this report, we describe two unrelated cases that presented with coronal CS. TCF12 sequencing analysis revealed novel frameshift nucleotide variants, which were evaluated as pathogenic according to the current guidelines for interpreting sequence variants. These findings expand the spectrum of TCF12 gene variants related with CS and support the importance of screening for such variants in patients with coronal synostosis.

Keywords: TCF12, craniosynostosis, clinical cases, frameshift, HEBβ

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