ArticleAmerican journal of medical genetics. Part A2011
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
Article in American journal of medical genetics. Part A, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 68 citations in OpenAlex.
- Costello Syndrome Associated With Somatic Mosaicism of Rare p.Gly13Asp HRAS Variant: Expanding the Phenotypic Spectrum.Molecular genetics & genomic medicine · 2026Article
- Genotype-Phenotype Analysis and New Clinical Findings in a Series of 24 Patients Presenting with Noonan Syndrome and Related Disorders.Molecular syndromology · 2026Article
- Adult syndromology: challenges, opportunities and perspectives:Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2024Article
- A novel HRAS c.466C>T p.(Phe156Leu) variant in two patients with attenuated features of Costello syndrome.European journal of human genetics : EJHG · 2022Article
- Multidisciplinary Management of Costello Syndrome: Current Perspectives.Journal of multidisciplinary healthcare · 2022Review
- Hypertrophic Cardiomyopathy in RASopathies: Diagnosis, Clinical Characteristics, Prognostic Implications, and Management.Heart failure clinics · 2022Review
- Review
- Application of CRISPR-Cas9 gene editing for congenital heart disease.Clinical and experimental pediatrics · 2021Article
- Chiari I malformation in patients with RASopathies.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2021Review
- The impact of RASopathy-associated mutations on CNS development in mice and humans.Molecular brain · 2019Review
- Chiari I malformation in defined genetic syndromes in children: are there common pathways?Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2019Article
- Costello syndrome: Clinical phenotype, genotype, and management guidelines.American journal of medical genetics. Part A · 2019Article
- Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome.American journal of human genetics · 2019Article
- Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp.American journal of medical genetics. Part A · 2017Article
- Age-related differences in prevalence of autism spectrum disorder symptoms in children and adolescents with Costello syndrome.American journal of medical genetics. Part A · 2017Article
- Mechanisms underlying cognitive deficits in a mouse model for Costello Syndrome are distinct from other RASopathy mouse models.Scientific reports · 2017Article
- Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature.Case reports in genetics · 2017Article
- A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.American journal of medical genetics. Part A · 2016Article
- An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.American journal of medical genetics. Part A · 2015Article
- Cardiomyopathies in Noonan syndrome and the other RASopathies.Progress in pediatric cardiology · 2015Article
Corrections and comments
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Authors and funding
18 authors at 13 institutions in 6 countries.
Funding
Abstract
Costello syndrome is characterized by severe failure-to-thrive, short stature, cardiac abnormalities (heart defects, tachyarrhythmia, and hypertrophic cardiomyopathy (HCM)), distinctive facial features, a predisposition to papillomata and malignant tumors, postnatal cerebellar overgrowth resulting in Chiari 1 malformation, and cognitive disabilities. De novo germline mutations in the proto-oncogene HRAS cause Costello syndrome. Most mutations affect the glycine residues in position 12 or 13, and more than 80% of patients share p.G12S. To test the hypothesis that subtle genotype-phenotype differences exist, we report the first cohort comparison between 12 Costello syndrome individuals with p.G13C and individuals with p.G12S. The individuals with p.G13C had many typical findings including polyhydramnios, failure-to-thrive, HCM, macrocephaly with posterior fossa crowding, and developmental delay. Subjectively, their facial features were less coarse. Statistically significant differences included the absence of multifocal atrial tachycardia (P-value = 0.033), ulnar deviation of the wrist (P < 0.001) and papillomata (P = 0.003), and fewer neurosurgical procedures (P = 0.024). Fewer individuals with p.G13C had short stature (height below -2 SD) without use of growth hormone (P < 0.001). The noteworthy absence of malignant tumors did not reach statistical significance. Novel ectodermal findings were noted in individuals with p.G13C, including loose anagen hair resulting in easily pluckable hair with a matted appearance, different from the tight curls typical for most Costello syndrome individuals. Unusually long eye lashes requiring trimming are a novel finding we termed dolichocilia. These distinctive ectodermal findings suggest a cell type specific effect of this particular mutation. Additional patients are needed to validate these findings.
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