LEOPARD Syndrome with PTPN11 Gene Mutation in Three Family Members Presenting with Different Phenotypes

Nuha Alfurayh; Fahad Alsaif; Nouf Alballa; Leena Zeitouni; Khushnooda Ramzan; Faiqa Imtiaz; Abdullah Alakeel

doi:10.1055/s-0039-3400226

LEOPARD Syndrome with PTPN11 Gene Mutation in Three Family Members Presenting with Different Phenotypes

J Pediatr Genet. 2020 Dec;9(4):246-251. doi: 10.1055/s-0039-3400226. Epub 2019 Nov 15.

Authors

Nuha Alfurayh¹, Fahad Alsaif¹, Nouf Alballa¹, Leena Zeitouni¹, Khushnooda Ramzan², Faiqa Imtiaz², Abdullah Alakeel¹

Affiliations

¹ Department of Dermatology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
² Department of Genetics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.

Abstract

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.

Keywords: LEOPARD syndrome; PTPN11; multiple lentigines.

Publication types

Case Reports