Variable phenotypic expression including late presentation of hypertrophic cardiomyopathy in LEOPARD syndrome with P.Q510E mutation in PTPN11 gene

Sayeed, Md. Zahidus and Salam, Md. Abdus and Siddiqui, Muhammad Afsar and Chandra, Pampa and Bhaduri, Joydeep and Bhuiyan, Zahurul A (2015) Variable phenotypic expression including late presentation of hypertrophic cardiomyopathy in LEOPARD syndrome with P.Q510E mutation in PTPN11 gene. International Journal of Clinical Cardiology, 2 (5). pp. 1-4. ISSN 23782951

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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. We herein 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. Interestingly patient has intact hearing and normal reproductive capacity, biologically fathered two children.

Item Type:	Article (Case Report)
Additional Information:	9217/87007
Uncontrolled Keywords:	LEOPARD syndrome, Noonan syndrome with multiple lentigines (NSML), PTPN11 gene, Q510E mutation, Hypertrophic cardiomyopathy, Fertility, Bangladesh
Subjects:	R Medicine > RC Internal medicine > RC667 Specialties of Internal Medicine-Diseases of Circulatory (Cardiovascular) System
Kulliyyahs/Centres/Divisions/Institutes (Can select more than one option. Press CONTROL button):	Kulliyyah of Medicine > Department of Basic Medical Kulliyyah of Medicine
Depositing User:	Prof. Dr. Md. Abdus Salam
Date Deposited:	28 Dec 2020 12:43
Last Modified:	28 Dec 2020 12:43
URI:	http://irep.iium.edu.my/id/eprint/87007

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