| Institution: | 1. Department of Medical Biology and Genetics, Akdeniz University Medical School, Antalya, Turkey;2. Department of Pediatric Genetics, Akdeniz University Medical School, Antalya, Turkey;3. https://orcid.org/0000-0002-3463-5763;4. Ozgul M. Alper, Department of Medical Biology and Genetics, Akdeniz University, School of Medicine, Antalya 07070, Turkey.;5. Banu Nur, Department of Pediatric Genetics, Akdeniz University Medical School, Antalya 07070, Turkey.;6. https://orcid.org/0000-0003-1536-2111 |
| Abstract: | Craniosynostosis consists of premature fusion of one or more cranial sutures and can be seen as part of a syndrome or diagnosed as nonsyndromic (isolated). Although more than 180 craniosynostosis syndromes have been identified, 70% of the cases are diagnosed as nonsyndromic. On the other hand, genetic causes of the cases are mostly unknown and the overall frequency of the genetic diagnosis is around 25%. In this study, we used targeted Next Generation Sequencing (NGS) analysis to identify the genetic variations of two craniosynostosis cases. We have identified two different truncating mutations, a known NM_207036.1:c.778_779delAT;p.(Met260Valfs*5) and a novel NM_207036.1:c.1102_1108delTCACCTC;p.(Pro369Glnfs*26) TCF12 variants. Additionally, upon physical examination of these two cases, we have observed some shared clinical similarities as well as differences such as bilateral simian crease and hidden cleft palate. This is the first study that reports the TCF12 mutations in Turkish patients with coronal suture synostosis. |
