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- Title
Phenotypical diversity of patients with LEOPARD syndrome carrying the worldwide recurrent p.Tyr279Cys PTPN11 mutation.
- Authors
Nemes, Edina; Farkas, Katalin; Kocsis-Deák, Barbara; Drubi, Andrea; Sulák, Adrienn; Tripolszki, Kornélia; Dósa, Piroska; Ferenc, Lakatos; Nagy, Nikoletta; Széll, Márta
- Abstract
LEOPARD syndrome (LS, OMIM 151100) is a rare monogenic disorder. The name is an acronym of its major features such as multiple lentigines, electrocardiographic conduction defects, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retardation of growth and sensorineural deafness. LS develops due to mutations in the protein-tyrosine phosphatase nonreceptor-type 11, PTPN11. Here, we have investigated a 51-year-old Hungarian male patient affected by LS. Direct sequencing of the PTPN11 gene revealed a worldwide recurrent missense mutation (c.836A/G; p.Tyr279Cys), which has been previously identified in 47 LS patients. Comparison of the clinical phenotypes of our patient and the ones reported in the literature demonstrates great phenotypic diversity despite the same genotype.
- Subjects
LEOPARD syndrome; MISSENSE mutation; PHENOTYPES; ELECTROCARDIOGRAPHY; PULMONARY stenosis; GENITALIA
- Publication
Archives of Dermatological Research, 2015, Vol 307, Issue 10, p891
- ISSN
0340-3696
- Publication type
Article
- DOI
10.1007/s00403-015-1597-4