Phenotypical diversity of patients with LEOPARD syndrome carrying the worldwide recurrent p.Tyr279Cys PTPN11 mutation

被引：0

作者：

Edina Nemes

Katalin Farkas

Barbara Kocsis-Deák

Andrea Drubi

Adrienn Sulák

Kornélia Tripolszki

Piroska Dósa

Lakatos Ferenc

Nikoletta Nagy

Márta Széll

机构：

[1] Dermatology and Venereology Unit of the Orosháza Hospital,MTA

[2] University of Szeged,SZTE Dermatological Research Group

[3] University of Szeged,Department of Medical Genetics

[4] Cardiology Unit of the Orosháza Hospital,Department of Dermatology and Allergology

[5] University of Szeged,undefined

来源：

Archives of Dermatological Research | 2015年 / 307卷

关键词：

LEOPARD syndrome; gene; Worldwide recurrent missense mutation; Phenotypic diversity; p.Y279C;

D O I：

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学科分类号：

摘要：

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.

引用

页码：891 / 895

页数：4