LEOPARD Syndrome (Multiple Lentigine Noonan Syndrome)

Ayşenur Saygılı1, Mine Ün2

1Inönü University Molecular Biology and Genetics Graduate, Malatya, Turkey
2ERBAS Institute of Experimental Medicine, Illinois, USA & Gebze, Turkey

Keywords: Amino acid, chromosome, lentigin, LEOPARD syndrome, mutation, Noonan syndrome, signaling pathway

Abstract

LEOPARD is a syndrome characterized by sensorineural hearing loss and abnormal genitalia in addition to dysmorphic facial features, including diffuse brown spots, cardiac abnormalities, short stature, pectus deformity, widely spaced eyes, and ptosis. LEOPARD consists of the initials of the findings obtained in the cases: Lentigines, Electrocardiographic abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormal genitalia, Retardation of growth and Deafness. This syndrome is autosomal dominant. In the syndrome, 4 mutations have been identified in this process from the investigated chromosomes to genes. These are PTPN11, RAF1, BRAF and MAP2K1. While these mutations cause amino acid changes in the genotype, they reveal visible clinical findings in the phenotype. It is also called Multiple Lentigine Noonan Syndrome due to its similarity with Noonan syndrome. Too many dark brown spots are present in individuals with LEOPARD syndrome as a distinctive clinical finding from Noonan syndrome.

Conflict of Interest

The authors declared no conflicts of interest with respect to the authorship and/or publication of this article.

Financial Disclosure

The authors received no financial support for the research and/or authorship of this article.