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. 2012 Apr;2(6):251-253.
doi: 10.1159/000335995. Epub 2012 Jan 31.

LEOPARD Syndrome Caused by Tyr279Cys Mutation in the PTPN11 Gene

E Martínez-Quintana  1 , F Rodríguez-González
Affiliations

LEOPARD Syndrome Caused by Tyr279Cys Mutation in the PTPN11 Gene

E Martínez-Quintana et al. Mol Syndromol. 2012 Apr.

Abstract

LEOPARD syndrome (LS) is an acronym consisting of lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonary valve stenosis, abnormal genitalia, retardation of growth and deafness. However, hypertrophic cardiomyopathy, the most frequent cause of sudden cardiac death in young people, is the most common cardiovascular manifestation in LS patients and the major determinant of mortality and morbidity. In approximately 85% of the patients with a definite diagnosis of LS, a missense mutation is found in the protein-tyrosine phosphatase non-receptor type 11 (PTPN11) gene located on chromosome 12q24.1. We report the case of an asymptomatic 17-year-old male with a missense mutation (c.836A>G) in exon 7 (Tyr279Cys) of the PTPN11 gene and a non-obstructive asymmetric anteroseptal hypertrophic cardiomyopathy.

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Figures

Fig. 1
Fig. 1
Multiple dark brown spots on the skin (lentiginosis) of chest, arms and neck.
Fig. 2
Fig. 2
Twelve-lead ECG showing high R waves in the right precordial leads with ST depression in the context of LVH and systolic ventricular overload.
See this image and copyright information in PMC

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