ArticleJournal of human genetics2021
Clinical and molecular spectra of BRAF-associated RASopathy.
Article in Journal of human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed.
- Molecular characterization of individuals with RASopathies: Spectrum of genetic variants in a large Indian cohort.Journal of genetics · 2026Article
- Aberrant ERK signaling in astrocytes impairs learning and memory in RASopathy-associated BRAF mutant mouse models.The Journal of clinical investigation · 2025Article
- Human Genetics of Atrial Septal Defect.Advances in experimental medicine and biology · 2024Review
- Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients.Orphanet journal of rare diseases · 2023Article
- Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.Journal of clinical medicine · 2023Article
- Skeletal defects and bone metabolism in Noonan, Costello and cardio-facio-cutaneous syndromes.Frontiers in endocrinology · 2023Review
- Cognitive Phenotype and Psychopathology in Noonan Syndrome Spectrum Disorders through Various Ras/MAPK Pathway Associated Gene Variants.Journal of clinical medicine · 2022Article
- Epilepsy in a cohort of children with Noonan syndrome and related disorders.European journal of pediatrics · 2022Article
- The genetic heterogeneity and drug resistance mechanisms of relapsed refractory multiple myeloma.Nature communications · 2022Article
- Review
- Phenotype expansion of variants affecting p38 MAPK signaling in hypospadias patients.Orphanet journal of rare diseases · 2022Article
- How can same-gene mutations promote both cancer and developmental disorders?Science advances · 2022Article
- Case report: Spindle cell neoplasm presenting as a spontaneous intestinal perforation in a term infant.Frontiers in pediatrics · 2022Article
- IQ-Switch is a QF-based innocuous, silencing-free, and inducible gene switch system in zebrafish.Communications biology · 2021Article
- RASopathies: From germline mutations to somatic and multigenic diseases.Biomedical journal · 2021Review
Corrections and comments
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Authors and funding
12 authors.
Funding
Abstract
Noonan syndrome (NS) and cardio-facio-cutaneous (CFC) syndrome are the most common subtypes of RASopathy. As an effector of Ras, BRAF is one of the molecules responsible for RASopathy. We investigated the phenotypic and genotypic features of 26 patients with BRAF-associated RASopathy. The clinical diagnoses were CFC (n = 21, 80.8%), NS (n = 3, 11.5%), NS/CFC (n = 1, 3.8%), and undefined syndromic intellectual disability (ID) (n = 1, 3.8%). The mostly shared phenotypes were ID (90.5%), cutaneous manifestations (84.6%), congenital heart defects (76.9%), short stature (76.9%), and dysmorphic features such as short neck (65.4%) and low-set ears (65.4%). Importantly, moderate to severe ID (57.1%) and epilepsy (26.9%) were noted. Eighteen different missense mutations were found, including a novel mutation, p.Phe498Tyr. p.Gln257Arg (n = 9, 34.6%) was the most common mutation, and the mutations were clustered in the cysteine-rich domain or protein kinase domain. A review of previously reported cases along with our findings revealed the existence of multiple sub-phenotypes of RASopathy within a single genotype, indicating that BRAF-associated RASopathy is not variant-specific. Our study further delineated the diverse and expanded clinical phenotypes of BRAF-associated RASopathy with their molecular genetic characteristics.
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