目的 探讨心-面-皮肤综合征严重表型患儿的临床特征和基因变异。方法 回顾分析2例具有心-面-皮肤 综合征严重表型患儿的临床资料,以及高通量测序技术检测的基因分析结果。结果 2例男性患儿,生后即出现喂养困难 及精神运动发育迟缓,除有颅面部和心脏畸形外,还伴喉气管畸形,均在6月龄内死亡。基因检测发现2例患儿的BRAF基 因存在新生变异c.1783T>C(p.F595L)、c.770A>G(p.Q257R)。 结论 发现2例国内未见报道的BRAF基因变异致心-面皮肤综合征严重表型患儿。
Objective To investigate the clinical manifestations and genetic features of two patients with severe cardiofacio-cutaneous syndrome. Methods High throughput sequencing was applied to detect the genetic change of two children with severe cardio-facio-cutaneous syndrome. The clinical manifestations and genetic characteristics were analyzed, and literature was reviewed. Results Both of the two patients had severe feeding problems, mental retardation and motor delays after birth. Besides the typical craniofacial features and cardiac malformations, laryngotracheal abnormalities were observed. Both patients died before six months old. Genetic detection revealed de novo heterogenous mutations in BRAF gene (1783T>C, p.F595L and c.770A>G, p.Q257R). Conclusion This is the first report of severe cardio-facio-cutaneous syndrome caused by BRAF gene mutation in China, coupled with features such as severe neurologic abnormalities, gastrointestinal symptoms and laryngotracheal abnormalities. The prognosis is poor.