Open AccessLEOPARD Syndrome with PTPN11 Gene Mutation in Three Family Members Presenting with Different Phenotypes
Author(s) -
Nuha Alfurayh,
Fahad Alsaif,
Nouf S. Alballa,
Leena Zeitouni,
Khushnooda Ramzan,
Faiqa Imtiaz,
Abdullah Alakeel
Publication year - 2019
Publication title -
journal of pediatric genetics
Language(s) - English
Resource type - Journals
eISSN - 2146-4596
pISSN - 2146-460X
DOI - 10.1055/s-0039-3400226
Subject(s) - ptpn11 , phenotype , genetics , mutation , gene , protein tyrosine phosphatase , biology , kinase , kras
LEOPARD syndrome (LS) is a rare autosomal dominant disorder that is characterized by multiple lentigines and various congenital anomalies. The clinical diagnosis of LS requires molecular confirmation. The most frequently reported mutations in LS patients are in the protein tyrosine phosphatase nonreceptor type 11 gene, PTPN11 . Herein, we report the cases of three family members from two generations who are affected by LS and all carry the PTPN11 mutation c.836A > G (p.Tyr279Cys), identified by next-generation sequencing, while exhibiting different phenotypes.