Variable Phenotypic Expression Including Late Presentation of Hypertrophic Cardiomyopathy in LEOPARD Syndrome with P.Q510E Mutation in PTPN11 Gene

Md Zahidus Sayeed

doi:10.23937/2378-2951/1410052

Abstract

LEOPARD syndrome is a complex dysmorphogenetic disorder of variable penetrance and expressivity. Mutations in the PTPN11 gene are frequently reported in patients with Noonan syndrome (NS) and LEOPARD syndrome (LS). Q510E mutation in PTPN11 has always been associated with lethal or rapidly progressive hypertrophic cardiomyopathy both in NS and LS patients. Besides, deafness is also frequently present in these patients, but reproductive fitness is questioned.

Highlights

LEOPARD syndrome (LS) is a rare autosomal dominant cardiocutaneous syndrome characterized by variable penetrance and expressivity
Molecular studies have proven that LEOPARD syndrome and Noonan syndrome are allelic disorders caused by different missense mutations in PTPN11, a gene encoding the protein tyrosine phosphatase SHP-2 located at band 12q24.1 [6]
LS greatly overlaps in clinical features with Noonan syndrome (NS), an allelic disorder caused by different missense mutations in PTPN11and specific mutations of the PTPN11 gene are associated with 50% of the NS cases [7,8]

Summary

Introduction

LEOPARD syndrome (LS) is a rare autosomal dominant cardiocutaneous syndrome characterized by variable penetrance and expressivity. We describe a case of LEOPARD syndrome from Bangladesh with Q510E mutation in the PTPN11 gene. Our patient almost fulfilled the entire acronym of LEOPARD with very late presentation of hypertrophic cardiomyopathy at the age of 36 yrs.

Results

Conclusion