HM Luk, IFM Lo, Y Aoki, TMF Tong, DHC Chan, STS Lam

Abstract

Cardio-facio-cutaneous (CFC) syndrome is a rare disorder of RASopathy that is caused by dysregulation of the RAS/MAPK signaling pathway. Germline mutations of BRAF, MEK1, MEK2 and KRAS genes account for 70-90% of the cases. We have performed mutational analysis for the clinically diagnosed CFC patients under the care of Clinical Genetics Service, Department of Health, Hong Kong Special Administrative Region between 2000 to 2011. Totally 7 unrelated clinically diagnosed Chinese CFC patients were studied. Mutations have been identified in 6 (85.7%) of our patients, including 5 (71.4%) BRAF mutations and 1 (14.2%) MEK2 mutation. Their clinical features were summarised. It can be concluded that the pattern of molecular defects and clinical characteristics of Chinese CFC patients are comparable with other populations without ethnic-specific difference.