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

التفاصيل البيبلوغرافية
العنوان: Two novel variants in the TCF12 gene identified in cases with craniosynostosis
المؤلفون: Goumenos A, Tsoutsou E, Traeger-Synodinos J, Petychakis D, Gavra M, Kolialexi A, Frysira H
المصدر: The Application of Clinical Genetics, Vol Volume 12, Pp 19-25 (2019)
بيانات النشر: Dove Medical Press, 2019.
سنة النشر: 2019
المجموعة: LCC:Medicine (General)
LCC:Genetics
مصطلحات موضوعية: TCF12, craniosynostosis, clinical cases, frameshift, Medicine (General), R5-920, Genetics, QH426-470
الوصف: 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
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 1178-704X
Relation: https://www.dovepress.com/two-novel-variants-in-the-tcf12-gene-identified-in-cases-with-craniosy-peer-reviewed-article-TACG; https://doaj.org/toc/1178-704X
URL الوصول: https://doaj.org/article/f27a4974f5b845d8aeb50694918c581b
رقم الأكسشن: edsdoj.f27a4974f5b845d8aeb50694918c581b
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:1178704X