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

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 progressiv...

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Main Authors: Sayeed, Md. Zahidus, Salam, Md. Abdus, Siddiqui, Muhammad Afsar, Chandra, Pampa, Bhaduri, Joydeep, Bhuiyan, Zahurul A
Format: Article
Language:English
Published: 2015
Subjects:
RC667 Specialties of Internal Medicine-Diseases of Circulatory (Cardiovascular) System
Online Access:http://irep.iium.edu.my/87007/1/LEOPARD.pdf
http://irep.iium.edu.my/87007/
http://doi.org/10.23937/2378-2951/1410052
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spelling my.iium.irep.870072020-12-28T04:43:42Z http://irep.iium.edu.my/87007/ Variable phenotypic expression including late presentation of hypertrophic cardiomyopathy in LEOPARD syndrome with P.Q510E mutation in PTPN11 gene Sayeed, Md. Zahidus Salam, Md. Abdus Siddiqui, Muhammad Afsar Chandra, Pampa Bhaduri, Joydeep Bhuiyan, Zahurul A RC667 Specialties of Internal Medicine-Diseases of Circulatory (Cardiovascular) System 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. 2015 Article PeerReviewed application/pdf en http://irep.iium.edu.my/87007/1/LEOPARD.pdf 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 http://doi.org/10.23937/2378-2951/1410052 doi:10.23937/2378-2951/1410052
institution Universiti Islam Antarabangsa Malaysia
building IIUM Library
collection Institutional Repository
continent Asia
country Malaysia
content_provider International Islamic University Malaysia
content_source IIUM Repository (IREP)
url_provider http://irep.iium.edu.my/
language English
topic RC667 Specialties of Internal Medicine-Diseases of Circulatory (Cardiovascular) System
spellingShingle RC667 Specialties of Internal Medicine-Diseases of Circulatory (Cardiovascular) System
Sayeed, Md. Zahidus
Salam, Md. Abdus
Siddiqui, Muhammad Afsar
Chandra, Pampa
Bhaduri, Joydeep
Bhuiyan, Zahurul A
Variable phenotypic expression including late presentation of hypertrophic cardiomyopathy in LEOPARD syndrome with P.Q510E mutation in PTPN11 gene
description 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.
format Article
author Sayeed, Md. Zahidus
Salam, Md. Abdus
Siddiqui, Muhammad Afsar
Chandra, Pampa
Bhaduri, Joydeep
Bhuiyan, Zahurul A
author_facet Sayeed, Md. Zahidus
Salam, Md. Abdus
Siddiqui, Muhammad Afsar
Chandra, Pampa
Bhaduri, Joydeep
Bhuiyan, Zahurul A
author_sort Sayeed, Md. Zahidus
title Variable phenotypic expression including late presentation of hypertrophic cardiomyopathy in LEOPARD syndrome with P.Q510E mutation in PTPN11 gene
title_short Variable phenotypic expression including late presentation of hypertrophic cardiomyopathy in LEOPARD syndrome with P.Q510E mutation in PTPN11 gene
title_full Variable phenotypic expression including late presentation of hypertrophic cardiomyopathy in LEOPARD syndrome with P.Q510E mutation in PTPN11 gene
title_fullStr Variable phenotypic expression including late presentation of hypertrophic cardiomyopathy in LEOPARD syndrome with P.Q510E mutation in PTPN11 gene
title_full_unstemmed Variable phenotypic expression including late presentation of hypertrophic cardiomyopathy in LEOPARD syndrome with P.Q510E mutation in PTPN11 gene
title_sort variable phenotypic expression including late presentation of hypertrophic cardiomyopathy in leopard syndrome with p.q510e mutation in ptpn11 gene
publishDate 2015
url http://irep.iium.edu.my/87007/1/LEOPARD.pdf
http://irep.iium.edu.my/87007/
http://doi.org/10.23937/2378-2951/1410052
_version_ 1687393188795383808
score 13.19449

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