Literature DB >> 16733669

PTPN11 gene mutations: linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype".

M Cristina Digilio1, Anna Sarkozy, Giuseppe Pacileo, Giuseppe Limongelli, Bruno Marino, Bruno Dallapiccola.   

Abstract

We describe the "LEOPARD syndrome (LS) phenotype" associated with the Gln510Glu mutation of the PTPN11 gene in two patients presenting with rapidly progressive severe biventricular obstructive hypertrophic cardiomyopathy and structural abnormalities of the mitral valve, facial anomalies, café-au-lait spots and multiple lentigines.

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Year:  2006        PMID： 16733669     DOI： 10.1007/s00431-006-0163-7

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  14 in total

1.  Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.

Authors:  A Sarkozy; E Conti; D Seripa; M C Digilio; N Grifone; C Tandoi; V M Fazio; V Di Ciommo; B Marino; A Pizzuti; B Dallapiccola
Journal:  J Med Genet       Date:  2003-09       Impact factor: 6.318

2.  Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome.

Authors:  A Sarkozy; E Conti; M Cristina Digilio; B Marino; E Morini; G Pacileo; M Wilson; R Calabrò; A Pizzuti; B Dallapiccola
Journal:  J Med Genet       Date:  2004-05       Impact factor: 6.318

3.  Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11.

Authors:  Kamini Kalidas; Adam C Shaw; Andrew H Crosby; Ruth Newbury-Ecob; Lynn Greenhalgh; Isabel K Temple; Caroline Law; Amisha Patel; Michael A Patton; Steve Jeffery
Journal:  J Hum Genet       Date:  2004-12-10       Impact factor: 3.172

4.  PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.

Authors:  Marco Tartaglia; Kamini Kalidas; Adam Shaw; Xiaoling Song; Dan L Musat; Ineke van der Burgt; Han G Brunner; Débora R Bertola; Andrew Crosby; Andra Ion; Raju S Kucherlapati; Steve Jeffery; Michael A Patton; Bruce D Gelb
Journal:  Am J Hum Genet       Date:  2002-05-01       Impact factor: 11.025

Review 5.  Noonan syndrome and related disorders: genetics and pathogenesis.

Authors:  Marco Tartaglia; Bruce D Gelb
Journal:  Annu Rev Genomics Hum Genet       Date:  2005       Impact factor: 8.929

6.  Rapidly progressive obstructive cardiomyopathy in infants with Noonan's syndrome. Report of two cases.

Authors:  H D Hirsch; H Gelband; O Garcia; S Gottlieb; D M Tamer
Journal:  Circulation       Date:  1975-12       Impact factor: 29.690

7.  Noonan syndrome: structural abnormalities of the mitral valve causing subaortic obstruction.

Authors:  B Marino; M G Gagliardi; M C Digilio; B Polletta; S Grazioli; D Agostino; A Giannotti; B Dallapiccola
Journal:  Eur J Pediatr       Date:  1995-12       Impact factor: 3.183

8.  Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.

Authors:  Maria Cristina Digilio; Emanuela Conti; Anna Sarkozy; Rita Mingarelli; Tania Dottorini; Bruno Marino; Antonio Pizzuti; Bruno Dallapiccola
Journal:  Am J Hum Genet       Date:  2002-06-07       Impact factor: 11.025

9.  LEOPARD syndrome: clinical diagnosis in the first year of life.

Authors:  M Cristina Digilio; Anna Sarkozy; Andrea de Zorzi; Giuseppe Pacileo; Giuseppe Limongelli; Rita Mingarelli; Raffaele Calabrò; Bruno Marino; Bruno Dallapiccola
Journal:  Am J Med Genet A       Date:  2006-04-01       Impact factor: 2.802

10.  Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.

Authors:  Marco Tartaglia; Simone Martinelli; Lorenzo Stella; Gianfranco Bocchinfuso; Elisabetta Flex; Viviana Cordeddu; Giuseppe Zampino; Ineke van der Burgt; Antonio Palleschi; Tamara C Petrucci; Mariella Sorcini; Claudia Schoch; Robin Foa; Peter D Emanuel; Bruce D Gelb
Journal:  Am J Hum Genet       Date:  2005-12-07       Impact factor: 11.025
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  13 in total

1.  Heterozygous deletion of AKT1 rescues cardiac contractility, but not hypertrophy, in a mouse model of Noonan Syndrome with Multiple Lentigines.

Authors:  Rajika Roy; Maike Krenz
Journal:  J Mol Cell Cardiol       Date:  2017-09-11       Impact factor: 5.000

2.  RASopathies: Clinical Diagnosis in the First Year of Life.

Authors:  M C Digilio; F Lepri; A Baban; M L Dentici; P Versacci; R Capolino; R Ferese; A De Luca; M Tartaglia; B Marino; B Dallapiccola
Journal:  Mol Syndromol       Date:  2011-09-14

3.  Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: palliative treatment with a rapamycin analog.

Authors:  Andreas Hahn; Jessica Lauriol; Josef Thul; Kachina Behnke-Hall; Tushiha Logeswaran; Anne Schänzer; Nuray Böğürcü; Boyan K Garvalov; Martin Zenker; Bruce D Gelb; Susanne von Gerlach; Reinhard Kandolf; Maria I Kontaridis; Dietmar Schranz
Journal:  Am J Med Genet A       Date:  2015-02-23       Impact factor: 2.802

4.  3D printing of severe hypertrophic cardiomyopathy in a child with Rasopathy.

Authors:  N F Johnston; T Prendiville; C J McMahon
Journal:  Ir J Med Sci       Date:  2017-06-25       Impact factor: 1.568

Review 5.  LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two case reports and a review of the literature.

Authors:  Ingrid Kalev; Kai Muru; Rita Teek; Riina Zordania; Tiia Reimand; Kristel Köbas; Katrin Ounap
Journal:  Eur J Pediatr       Date:  2009-09-20       Impact factor: 3.183

6.  Costello syndrome: clinical diagnosis in the first year of life.

Authors:  M Cristina Digilio; Anna Sarkozy; Rossella Capolino; M Beatrice Chiarini Testa; Giorgia Esposito; Andrea de Zorzi; Renato Cutrera; Bruno Marino; Bruno Dallapiccola
Journal:  Eur J Pediatr       Date:  2007-08-29       Impact factor: 3.183

7.  PTPN11 gene mutation and severe neonatal hypertrophic cardiomyopathy: what is the link?

Authors:  Maria Felicia Faienza; Lucia Giordani; Marina Ferraris; Gianni Bona; Luciano Cavallo
Journal:  Pediatr Cardiol       Date:  2009-07-07       Impact factor: 1.655

8.  NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genes.

Authors:  Ozge Ceyhan-Birsoy; Maya M Miatkowski; Elizabeth Hynes; Birgit H Funke; Heather Mason-Suares
Journal:  Hum Mutat       Date:  2018-05-16       Impact factor: 4.878

9.  A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1.

Authors:  Jill A Fahrner; Aisha Frazier; Suha Bachir; Michael F Walsh; Carolyn D Applegate; Reid Thompson; Marc K Halushka; Anne M Murphy; Meral Gunay-Aygun
Journal:  Am J Med Genet A       Date:  2012-05-14       Impact factor: 2.802

10.  LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation.

Authors:  Madhusudan Ganigara; Atul Prabhu; Raghvannair Suresh Kumar
Journal:  Ann Pediatr Cardiol       Date:  2011-01
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