Leopard syndrome

Definition:

LEOPARD syndrome is an autosomal dominant developmental disorder belonging to a relatively prevalent class of inherited RAS-MAPK signalling diseases. Its main features are lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonary valve stenosis, abnormal genitalia, retardation of growth and deafness. Approximately 90% of LEOPARD syndrome cases are caused by missense mutations in the PTPN11 gene which encodes the protein tyrosine phosphatase SHP2. But it may also be caused by mutations in RAF1 or BRAF.

References:

[1]. Bhaswati Pandit, et al. Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat Genet. 2007 Aug;39(8):1007-12. [Content Brief]

[2]. Monika Koudova, et al. Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence. Eur J Med Genet. 2009 Sep-Oct;52(5):337-40. [Content Brief]

[3]. Xonia Carvajal-Vergara, et al. Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome. Nature. 2010 Jun 10;465(7299):808-12. [Content Brief]

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