Male‐to‐male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism

No abstract is available for this paper.

• Publication year

  2009

• Venue

  American Journal of Medical Genetics. Part A

• Publication date

  2009-03-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1002/ajmg.a.32639PMID 19206176PMCID PMC2653086
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• The Molecular Basis of Costello Syndrome

  2009cited by this paper
• The diagnosis of Costello syndrome: Nomenclature in Ras/MAPK pathway disorders

  2008cited by this paper
• Costello syndrome associated with novel germline HRAS mutations: An attenuated phenotype?

  2008cited by this paper
• Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio‐facio‐cutaneous syndrome from Costello syndrome

  2007cited by this paper
• Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome

  2007cited by this paper
• Somatic mosaicism for an HRAS mutation causes Costello syndrome

  2006cited by this paper
• Recurring HRAS mutation G12S in Dutch patients with Costello syndrome

  2006cited by this paper
• Paternal bias in parental origin of HRAS mutations in Costello syndrome

  2006cited by this paper
• HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation

  2006cited by this paper
• The adult phenotype in Costello syndrome

  2005cited by this paper
• Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases

  2005cited by this paper
• Mutations in Costello Syndrome : Detection of Constitutional Activating Mutations in Codon 12 and 13 and Loss of Wild-Type Allele in Malignancy

  2005cited by this paper
• Noonan syndrome and related disorders

  2005cited by this paper
• Germline mutations in HRAS proto-oncogene cause Costello syndrome

  2005influential reference
• Costello syndrome in two siblings and minor manifestations in their mother. Further evidence for autosomal dominant inheritance?

  2002cited by this paper
• Costello syndrome: phenotype, natural history, differential diagnosis, and possible cause.

  1998cited by this paper
• Costello syndrome: further clinical delineation, natural history, genetic definition, and nosology.

  1993cited by this paper

• RASopathies. Part I: Genetics and therapeutic considerations.

  2025cites this paper
• Somatische HRAS p.G12S‐Mutation verursacht Mosaik‐Costello‐Syndrom mit speziellen Hautmanifestationen

  2024cites this paper
• Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS‐positive variant patients

  2024cites this paper
• Somatic HRAS p.G12S mutation causes mosaic Costello syndrome with special cutaneous manifestations

  2024cites this paper
• Mosaic RASopathies concept: different skin lesions, same systemic manifestations?

  2024cites this paper
• Schimmelpenning‐Feuerstein‐Mims syndrome induced by HRAS Gly12Ser somatic mosaic mutation: Case report and literature review

  2023cites this paper
• Identification of Codon 146 KRAS Variants in Isolated Epidermal Nevus and Multiple Lesions in Oculoectodermal Syndrome: Confirmation of the Phenotypic Continuum of Mosaic RASopathies

  2022cites this paper
• Induced pluripotent stem cells for modeling Noonan, Noonan Syndrome with Multiple Lentigines, and Costello Syndromes

  2022cites this paper
• Genetics of Neurocutaneous Syndromes

  2022cites this paper
• Multidisciplinary Management of Costello Syndrome: Current Perspectives

  2022cites this paper
• RASopathies

  2021cites this paper
• RASopathies: Dermatologists' viewpoints.

  2021cites this paper
• Costello syndrome with special cutaneous manifestations and HRAS G12D mutation: A case report and literature review

  2021influential citation
• Woolly hair nevus caused by somatic mutation and Costello syndrome caused by germline mutation in HRAS: Consider parental mosaicism in prenatal counseling

  2021cites this paper
• Hyperinsulinemic Hypoglycemia in a Patient with Costello Syndrome: An Etiology to Consider in Hypoglycemia

  2020influential citation
• Keratinocytic epidermal nevi associated with localized fibro‐osseous lesions without hypophosphatemia

  2020cites this paper
• Neurodevelopmental Aspects of RASopathies

  2019cites this paper
• Mosaic abnormalities of the skin: review and guidelines from the European Reference Network for rare skin diseases

  2019cites this paper
• Costello syndrome: Clinical phenotype, genotype, and management guidelines

  2019cites this paper
• RAS signalling in energy metabolism and rare human diseases.

  2018cites this paper
• RAS GTPase-dependent pathways in developmental diseases: old guys, new lads, and current challenges.

  2018cites this paper
• A sibling pair with cardiofaciocutaneous syndrome (CFC) secondary to BRAF mutation with unaffected parents—the first cases of gonadal mosaicism in CFC?

  2018cites this paper
• Mosaic NRAS Q61R mutation in a child with giant congenital melanocytic naevus, epidermal naevus syndrome and hypophosphataemic rickets

  2017cites this paper
• A novel patient with an attenuated Costello syndrome phenotype due to an HRAS mutation affecting codon 146—Literature review and update

  2017cites this paper
• First Case Report of Costello Syndrome in the Azeri Turkish Population

  2017cites this paper
• Gonadal mosaicism and non‐invasive prenatal diagnosis for ‘reassurance’ in sporadic paternal age effect (PAE) disorders

  2017cites this paper
• Application of Next-Generation Sequencing in Noonan Spectrum Disorders

  2017cites this paper
• Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis

  2016cites this paper
• Elucidating the signaling pathways regulating syndromic and nonsyndromic rhabdomyosarcoma

  2016cites this paper
• Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma

  2016cites this paper
• An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences

  2015cites this paper
• Molecular Genetics and Prenatal Diagnosis

  2015cites this paper
• OF NEURODEVELOPMENTAL DISORDERS

  2015cites this paper
• Abnormal Ras signaling in Costello syndrome (CS) negatively regulates enamel formation.

  2014cites this paper
• Human genetics and clinical aspects of neurodevelopmental disorders

  2014cites this paper
• Mosaic Manifestation of Autosomal Dominant Skin Disorders

  2014cites this paper
• Clinical genetics of neurodevelopmental disorders

  2014cites this paper
• De novo germline disorders of the Ras-MAPK pathway : clinical delineation, molecular diagnosis and pathogenesis

  2014cites this paper
• Keratoconus in Costello Syndrome

  2013cites this paper
• Nevus sebaceus is a mosaic RASopathy.

  2013cites this paper
• The RASopathies.

  2013cites this paper
• Naevus marginatus revisited: a combined organoid and nonorganoid epidermal naevus caused by HRAS mutation

  2013cites this paper
• Mosaic RASopathies

  2013cites this paper
• A protein domain-centric approach for the comparative analysis of human and yeast phenotypically relevant mutations

  2013cites this paper
• Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome

  2012cites this paper
• Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype

  2012influential citation
• Somatic mosaicism for oncogenic NRAS mutations in juvenile myelomonocytic leukemia.

  2012cites this paper
• Keratinocytic epidermal nevi are associated with mosaic RAS mutations

  2012influential citation
• C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndrome

  2012cites this paper
• A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development

  2012cites this paper
• Zespół Costello jako przykład rzadkich zaburzeń funkcji szlaku sygnalnego Ras-MAPK: obraz kliniczny i diagnostyka molekularna choroby

  2012cites this paper
• The RASopathies: Syndromes of Ras/MAPK Pathway Dysregulation

  2012cites this paper
• KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G‐domain: Report of another family with metopic craniosynostosis

  2012cites this paper
• HRAS mutation mosaicism causing urothelial cancer and epidermal nevus.

  2011cites this paper
• Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome

  2011influential citation
• HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome

  2011cites this paper
• Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK pathway syndrome

  2011cites this paper
• Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations

  2011cites this paper
• HRAS Mutation Mosaicism Causing Urothelial Cancer and Epidermal Nevus

  2011cites this paper
• Chapter 16. Costello Syndrome

  2010cites this paper
• Germinal mosaicism in Noonan syndrome: A family with two affected siblings of normal parents

  2010cites this paper
• Somatic gene mutation and human disease other than cancer: an update.

  2010cites this paper
• RAS-MAPK pathway disorders: important causes of congenital heart disease, feeding difficulties, developmental delay and short stature

  2010cites this paper
• Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in “paternal age-effect” syndromes

  2010cites this paper
• Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation

  2010cites this paper
• Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia

  2009cites this paper
• Mosaicism in Marshall syndrome

  2009cites this paper
• GRIPP ET AL Costello Syndrome : Clinical Phenotype , Genotype , and Management Guidelines

  year unknowncites this paper