Zhang Jia, Shen Jinwen, Cheng Ruhong, Ni Cheng, Liang Jianying, Li Ming, Yao Zhirong
Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University, School of Medicine, Shanghai 200092, P.R. China.
Mol Med Rep. 2016 Sep;14(3):2639-43. doi: 10.3892/mmr.2016.5547. Epub 2016 Jul 27.
LEOPARD syndrome (LS) is an autosomal dominant inherited disorder primarily caused by mutations in the PTPN11, RAF1 and BRAF genes. Characteristic features include lentigines, craniofacial dysmorphism, myocardium or valve abnormalities, eletrocardiographic conduction defects and deafness. LS, neurofibromatosis type 1, Noonan syndrome and Legius syndrome are a group of highly overlapped disorders termed 'RASopathies'. Therefore, clinical discrimination between these syndromes represents a huge challenge. The present study reports a young child diagnosed with LS via identification of a common p.Thr468Met mutation in PTPN11. Taking into account two Taiwanese LS cases with an identical mutation, Thr468Met is likely to be the most prevalent mutation in the Chinese population. Furthermore, this study suggests that a clinical diagnosis of LS should be considered for individuals with congenital cardiac defects and atypical lentigines (i.e., light brown freckles) scattered particularly on the face.
豹皮综合征（LS）是一种常染色体显性遗传性疾病，主要由PTPN11、RAF1和BRAF基因的突变引起。其特征包括雀斑、颅面畸形、心肌或瓣膜异常、心电图传导缺陷和耳聋。LS、1型神经纤维瘤病、努南综合征和勒吉尤斯综合征是一组高度重叠的疾病，称为“RAS病”。因此，这些综合征之间的临床鉴别是一项巨大的挑战。本研究报告了一名幼儿，通过鉴定PTPN11中常见的p.Thr468Met突变被诊断为LS。考虑到两例具有相同突变的台湾LS病例，Thr468Met可能是中国人群中最常见的突变。此外，本研究表明，对于患有先天性心脏缺陷且面部尤其散在有非典型雀斑（即浅棕色雀斑）的个体，应考虑临床诊断为LS。
