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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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 |
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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 |
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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. |
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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 |
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1687393188795383808 |
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13.19449 |