title: Phenotypical diversity of patients with LEOPARD syndrome carrying the worldwide recurrent p.Tyr279Cys PTPN11 mutation.
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.
authors.affiliation: Dermatology and Venereology Unit of the Orosháza Hospital, Orosháza, Hungary.
authors.forename: Edina
authors.initials: E
authors.lastname: Nemes
authors.affiliation: MTA-SZTE Dermatological Research Group, University of Szeged, Szeged, Hungary.
authors.forename: Katalin
authors.initials: K
authors.lastname: Farkas
authors.affiliation: Department of Medical Genetics, University of Szeged, 6 Somogyi Bela Street, Szeged, 6724, Hungary.
authors.forename: Barbara
authors.initials: B
authors.lastname: Kocsis-Deák
authors.affiliation: Department of Medical Genetics, University of Szeged, 6 Somogyi Bela Street, Szeged, 6724, Hungary.
authors.forename: Andrea
authors.initials: A
authors.lastname: Drubi
authors.affiliation: Department of Medical Genetics, University of Szeged, 6 Somogyi Bela Street, Szeged, 6724, Hungary.
authors.forename: Adrienn
authors.initials: A
authors.lastname: Sulák
authors.affiliation: Department of Medical Genetics, University of Szeged, 6 Somogyi Bela Street, Szeged, 6724, Hungary.
authors.forename: Kornélia
authors.initials: K
authors.lastname: Tripolszki
authors.affiliation: Department of Dermatology and Allergology, University of Szeged, Szeged, Hungary.
authors.forename: Piroska
authors.initials: P
authors.lastname: Dósa
authors.affiliation: Cardiology Unit of the Orosháza Hospital, Orosháza, Hungary.
authors.forename: Lakatos
authors.initials: L
authors.lastname: Ferenc
authors.affiliation: MTA-SZTE Dermatological Research Group, University of Szeged, Szeged, Hungary. nikoletta.nagy@gmail.com.|Department of Medical Genetics, University of Szeged, 6 Somogyi Bela Street, Szeged, 6724, Hungary. nikoletta.nagy@gmail.com.|Department of Dermatology and Allergology, University of Szeged, Szeged, Hungary. nikoletta.nagy@gmail.com.
authors.forename: Nikoletta
authors.initials: N
authors.lastname: Nagy
authors.affiliation: MTA-SZTE Dermatological Research Group, University of Szeged, Szeged, Hungary.|Department of Medical Genetics, University of Szeged, 6 Somogyi Bela Street, Szeged, 6724, Hungary.
authors.forename: Márta
authors.initials: M
authors.lastname: Széll
mesh_terms: D001483:Base Sequence; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D006814:Hungary; D044542:LEOPARD Syndrome / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D010641:Phenotype; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11 / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11
keywords: LEOPARD syndrome; PTPN11 gene; Phenotypic diversity; Worldwide recurrent missense mutation; p.Y279C