Identification of a PTPN11 hot spot mutation in a child with atypical LEOPARD syndrome

Zhang,Jia; Shen,Jinwen; Cheng,Ruhong; Ni,Cheng; Liang,Jianying; Li,Ming; Yao,Zhirong

doi:10.3892/mmr.2016.5547

Identification of a PTPN11 hot spot mutation in a child with atypical LEOPARD syndrome

Authors:
- Jia Zhang
- Jinwen Shen
- Ruhong Cheng
- Cheng Ni
- Jianying Liang
- Ming Li
- Zhirong Yao
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Affiliations: Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University, School of Medicine, Shanghai 200092, P.R. China
Published online on: July 27, 2016 https://doi.org/10.3892/mmr.2016.5547
Pages: 2639-2643

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Abstract

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.

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