期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 173, 期 9, 页码 2346-2352出版社
WILEY
DOI: 10.1002/ajmg.a.38337
关键词
cardio-facio-cutaneous syndrome; craniosynostosis; Noonan syndrome; RASopathy
资金
- Japanese Ministry of Health, Labour, and Welfare
- Japan Agency for Medical Research and Development (AMED)
- Grants-in-Aid for Scientific Research [15K01792, 15KK0293] Funding Source: KAKEN
RASopathies are phenotypically overlapping genetic disorders caused by dysregulation of the RAS/mitogen-activated protein kinase (MAPK) signaling pathway. RASopathies include Noonan syndrome, cardio-facio-cutaneous (CFC) syndrome, Costello syndrome, Neurofibromatosis type 1, Legius syndrome, Noonan syndrome with multiple lentigines, Noonan-like syndrome, hereditary gingival fibromatosis, and capillary malformation/arteriovenous malformation syndrome. Recently, six patients with craniosynostosis and Noonan syndrome involving KRAS mutations were described in a review, and a patient with craniosynostosis and Noonan syndrome involving a SHOC2 mutation has also been reported. Here, we describe patients with craniosynostosis and Noonan syndrome due to de novo mutations in PTPN11 and patients with craniosynostosis and CFC syndrome due to de novo mutations in BRAF or KRAS. All of these patients had cranial deformities in addition to the typical phenotypes of CFC syndrome and Noonan syndrome. In RASopathy, patients with cranial deformities, further assessments may be necessary to look for craniosynostosis. Future studies should attempt to elucidate the pathogenic mechanism responsible for craniosynostosis mediated by the RAS/MAPK signaling pathway.
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