ArticlePediatric cardiology2009
PTPN11 gene mutation and severe neonatal hypertrophic cardiomyopathy: what is the link?
Article in Pediatric cardiology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed.
- Review
- Review
- High frequency of hotspot mutation in PTPN11 gene among Moroccan patients with Noonan syndrome.Journal of applied genetics · 2024Article
- [Clinical practice of whole-genome sequencing in the rapid diagnosis of critically ill neonates].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023Article
- Novel missense mutation of SASH1 in a Chinese family with dyschromatosis universalis hereditaria.BMC medical genomics · 2021Article
- Growth plate gene involment and isolated short stature.Endocrine · 2021Review
- Growth in Children With Noonan Syndrome and Effects of Growth Hormone Treatment on Adult Height.Frontiers in endocrinology · 2021Article
- Venous Thromboembolism in Children: From Diagnosis to Management.International journal of environmental research and public health · 2020Review
- Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: the multifaceted consequences of PTPN11 mutations.Orphanet journal of rare diseases · 2019Article
- NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genes.Human mutation · 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
- A Novel Noonan Syndrome RAF1 Mutation: Lethal Course in a Preterm Infant.Pediatric reports · 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
- Pulmonary interstitial glycogenosis associated with pulmonary hypertension and hypertrophic cardiomyopathy.Pediatric cardiology · 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
- LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation.Annals of pediatric cardiology · 2011Article
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Noonan syndrome (NS) is an autosomal dominant disorder characterized by multiple dysmorphic features and a broad spectrum of congenital heart defects. Specific mutations of the PTPN11 gene are associated with 50% of the NS cases and 90% of the multiple lentigines/LEOPARD syndrome (ML/LS) cases. These two allelic conditions have several overlapping clinical features. This study describes the association between the Gln510Glu mutation of the PTPN11 gene and lethal progressive hypertrophic cardiomyopathy (HCM) in a newborn with the NS phenotype. The findings confirm the intriguing relationship between site-specific mutations of the PTPN11 gene and rapidly progressive HCM.
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Registered trials
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