作者
Elanur Yilmaz, Ercan Mihci, Banu Nur, Ozgul M Alper
发表日期
2019/11
期刊
American Journal of Medical Genetics Part A
卷号
179
期号
11
页码范围
2241-2245
出版商
John Wiley & Sons, Inc.
简介
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 …
引用总数
学术搜索中的文章
E Yilmaz, E Mihci, B Nur, OM Alper - American Journal of Medical Genetics Part A, 2019