2021年6月29日
Noonan syndrome-like phenotype in a patient with heterozygous ERF truncating variant.
Congenital anomalies
- ,
- ,
- ,
- ,
- ,
- ,
- ,
- 巻
- 61
- 号
- 6
- 開始ページ
- 226
- 終了ページ
- 230
- 記述言語
- 英語
- 掲載種別
- 研究論文(学術雑誌)
- DOI
- 10.1111/cga.12435
Craniosynostosis is caused by abnormalities of multiple signaling pathways, including excessive RAS signaling. Recently, a truncating variant in ETS2 repressor factor (ERF), a negative transcriptional regulator of the RAS pathway, was shown to be associated with craniosynostosis. Here, we report a 10-year-old male patient with a heterozygous nonsense mutation, p.Arg183*, in ERF who exhibited craniosynostosis with Noonan syndrome-like phenotypes. In consideration that loss-of-function variants in ERF would result in excessive RAS signaling and RASopathy phenotypes, we propose that ERF may represent a causative gene for Noonan syndrome. Since preceding studies on ERF mutations dealt with patients who were ascertained because of craniosynostosis, further studies are needed to evaluate whether patients with variants in ERF can present with Noonan syndrome-like features without craniosynostosis.
- ID情報
-
- DOI : 10.1111/cga.12435
- PubMed ID : 34184330