scholarly journals Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development

2008 ◽  
Vol 18 (1) ◽  
pp. 193-201 ◽  
Author(s):  
Kimihiko Oishi ◽  
Hui Zhang ◽  
William J. Gault ◽  
Cindy J. Wang ◽  
Cheryl C. Tan ◽  
...  
Keyword(s):  
Leopard Syndrome ◽  
Gain Of Function ◽  
Ptpn11 Gene ◽  
Drosophila Development

scholarly journals Dermatologic Manifestations of the LEOPARD Syndrome

2013 ◽  
Vol 7 (1) ◽  
pp. 11-14 ◽  
Author(s):  
S. Cao ◽  
A.F. Nikkels
Keyword(s):  
Pulmonary Stenosis ◽  
Clinical Manifestations ◽  
Hypertrophic Obstructive Cardiomyopathy ◽  
Leopard Syndrome ◽  
Ptpn11 Gene ◽  
Melanocytic Nevi ◽  
Progressive Development ◽  
Progressive Growth ◽  
Ocular Hypertelorism ◽  
Dermatologic Manifestations

The LEOPARD syndrome is an exceptional autosomal dominant genetic disease with a missense mutation of the PTPN11 gene in more than 90% of the cases. The principal clinical manifestations include extensive lentiginosis, heart conduction abnormalities, hypertrophic obstructive cardiomyopathy, ocular hypertelorism, pulmonary stenosis, genital anomalies, mental retardation, growth retardation and deafness. A woman with a LEOPARD syndrome illustrates the progressive development of melanocytic nevi. In fact, the majority of lentigines are actually melanocytic nevi. Sequential digital dermoscopy evidences progressive growth of some melanocytic lesions. The ever-increasing number of melanocytic nevi in the LEOPARD syndrome is a risk factor for melanoma and full body photography and dermoscopy are recommended for follow-up.

scholarly journals Diverse Domains of THREAD/DIAP1 Are Required to Inhibit Apoptosis Induced by REAPER and HID in Drosophila

Genetics ◽  
2000 ◽  
Vol 154 (2) ◽  
pp. 669-678 ◽  
Author(s):  
Simonetta Lisi ◽  
Ilaria Mazzon ◽  
Kristin White
Keyword(s):  
Embryonic Development ◽  
Loss Of Function ◽  
Gain Of Function ◽  
Drosophila Development ◽  
Short Region

Abstract Significant amounts of apoptosis take place during Drosophila development. The proapoptotic genes reaper (rpr), grim, and head involution defective (hid) are required for virtually all embryonic apoptosis. The proteins encoded by these genes share a short region of homology at their amino termini. The Drosophila IAP homolog THREAD/DIAP1 (TH/DIAP1), encoded by the thread (th) gene, negatively regulates apoptosis during development. It has been proposed that RPR, GRIM, and HID induce apoptosis by binding and inactivating TH/DIAP1. The region of homology between the three proapoptotic proteins has been proposed to bind to the conserved BIR2 domain of TH/DIAP1. Here, we present an analysis of loss-of-function and gain-of-function alleles of th, which indicates that additional domains of TH/DIAP1 are necessary for its ability to inhibit death induced by RPR, GRIM, and HID. In addition, that analysis of loss-of-function mutations demonstrates that th is necessary to block apoptosis very early in embryonic development. This may reflect a requirement to block maternally provided RPR and HID, or it may indicate another function of the TH/DIAP1 protein.

PTPN11 gene mutations: linking the Gln510Glu mutation to the “LEOPARD syndrome phenotype”

2006 ◽  
Vol 165 (11) ◽  
pp. 803-805 ◽  
Author(s):  
M. Cristina Digilio ◽  
Anna Sarkozy ◽  
Giuseppe Pacileo ◽  
Giuseppe Limongelli ◽  
Bruno Marino ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Leopard Syndrome ◽  
Ptpn11 Gene

scholarly journals A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome

2004 ◽  
Vol 12 (12) ◽  
pp. 1069-1072 ◽  
Author(s):  
Anna Sarkozy ◽  
Maria Gabriela Obregon ◽  
Emanuela Conti ◽  
Giorgia Esposito ◽  
Rita Mingarelli ◽  
...  
Keyword(s):  
Giant Cell ◽  
Gene Mutation ◽  
Noonan Syndrome ◽  
Leopard Syndrome ◽  
Ptpn11 Gene ◽  
Giant Cell Lesion ◽  
Multiple Lentigines

New insights into the pathogenesis of multiple lentigines in LEOPARD syndrome with PTPN11 gene mutation

2016 ◽  
Vol 84 (1) ◽  
pp. e142 ◽  
Author(s):  
Sei-ichiro Motegi ◽  
Yoko Yokoyama ◽  
Sachiko Ogino ◽  
Kazuya Yamada ◽  
Akihiko Uchiyama ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Leopard Syndrome ◽  
Ptpn11 Gene ◽  
Multiple Lentigines

Is sudden cardiac death predictable in LEOPARD syndrome?

2006 ◽  
Vol 16 (6) ◽  
pp. 599-601 ◽  
Author(s):  
Giuseppe Limongelli ◽  
Giuseppe Pacileo ◽  
Raffaele Calabrò
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Sudden Cardiac Death ◽  
Risk Stratification ◽  
Clinical Features ◽  
Cardiac Death ◽  
Young Male ◽  
Leopard Syndrome ◽  
Ptpn11 Gene ◽  
Obstructive Hypertrophic Cardiomyopathy

We report the sudden cardiac death of a young male presenting with classic clinical features of LEOPARD syndrome, shown to be due to a mutation in the PTPN11 gene, and severe non obstructive hypertrophic cardiomyopathy. We also discuss briefly the usefulness of prophylactic risk stratification in patients with syndromic and non syndromic hypertrophic cardiomyopathy.

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