ArticleEuropean journal of pediatrics2005
A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy.
Article in European journal of pediatrics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 44 citations in OpenAlex.
- SHP2 clinical phenotype, cancer, or RASopathies, can be predicted by mutant conformational propensities.Cellular and molecular life sciences : CMLS · 2023Article
- A novel stop-gain pathogenic variant in FLT4 and a nonsynonymous pathogenic variant in PTPN11 associated with congenital heart defects.European journal of medical research · 2022Article
- Identification of Gene Mutations in Primary Pediatric Cardiomyopathy by Whole Exome Sequencing.Pediatric cardiology · 2020Article
- Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: the multifaceted consequences of PTPN11 mutations.Orphanet journal of rare diseases · 2019Article
- Clinical and mutation profile of pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: results from a Chinese cohort.Orphanet journal of rare diseases · 2019Article
- NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genes.Human mutation · 2018Article
- 3D printing of severe hypertrophic cardiomyopathy in a child with Rasopathy.Irish journal of medical science · 2018Article
- Heterozygous deletion of AKT1 rescues cardiac contractility, but not hypertrophy, in a mouse model of Noonan Syndrome with Multiple Lentigines.Journal of molecular and cellular cardiology · 2017Article
- Shp2 and Pten have antagonistic roles in myeloproliferation but cooperate to promote erythropoiesis in mammals.Proceedings of the National Academy of Sciences of the United States of America · 2015Article
- Elevated Ca2+ transients and increased myofibrillar power generation cause cardiac hypercontractility in a model of Noonan syndrome with multiple lentigines.American journal of physiology. Heart and circulatory physiology · 2015Article
- Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: palliative treatment with a rapamycin analog.American journal of medical genetics. Part A · 2015Article
- New approaches to prevent LEOPARD syndrome-associated cardiac hypertrophy by specifically targeting Shp2-dependent signaling.The Journal of biological chemistry · 2013Article
- A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1.American journal of medical genetics. Part A · 2012Article
- Evolutionary analyses of entire genomes do not support the association of mtDNA mutations with Ras/MAPK pathway syndromes.PloS one · 2011Article
- Effect of cibenzoline on biventricular pressure gradients in a pediatric patient with hypertrophic obstructive cardiomyopathy.Pediatric cardiology · 2010Article
- PTPN11 gene mutation and severe neonatal hypertrophic cardiomyopathy: what is the link?Pediatric cardiology · 2009Article
- Leopard syndrome.Orphanet journal of rare diseases · 2008Review
- Article
- PTPN11 gene mutations: linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype".European journal of pediatrics · 2006Article
- The cardiofaciocutaneous syndrome.Journal of medical genetics · 2006Review
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
unlabelledA male infant with clinical features of Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy is reported. He manifested severe heart failure and failure to thrive. Administration of propranolol and cibenzoline improved ventricular outflow tract obstruction, leading to catch-up growth. Genetic analysis of the patient revealed a novel missense mutation in the PTPN11 gene.
conclusionThis is the first description of a patient with a Gln510Glu mutation in the protein-tyrosine phosphatase, non-receptor type 11 gene. This specific mutation may be associated with a rapidly progressive hypertrophic cardiomyopathy.
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