ArticleAmerican journal of human genetics1999
A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.
Article in American journal of human genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
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Who cites it
42 citing papers in PubMed, 163 citations in OpenAlex.
- Rabson-Mendenhall syndrome caused by a novel splice-site mutation (c.1123+2 T>C) of insulin receptor: A case report and review of literature.World journal of diabetes · 2026Article
- Golgi Retention and Oncogenic Signaling of KIT Tyrosine Kinase in Gastrointestinal Stromal Tumor.Sub-cellular biochemistry · 2026Review
- A case of long-term survival of SADDAN treated with growth hormone for marked short stature.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2024Article
- Clinical management and emerging therapies of FGFR3-related skeletal dysplasia in childhood.Annals of pediatric endocrinology & metabolism · 2022Article
- Autosomal dominant familial acanthosis nigricans caused by a C-terminal nonsense mutation of FGFR3.Journal of human genetics · 2021Article
- Signaling Pathways in Bone Development and Their Related Skeletal Dysplasia.International journal of molecular sciences · 2021Review
- Enhanced FGFR3 activity in postmitotic principal neurons during brain development results in cortical dysplasia and axonal tract abnormality.Scientific reports · 2020Article
- Fibroblast growth factor receptor signaling as therapeutic targets in female reproductive system cancers.Journal of Cancer · 2020Review
- Achondroplasia: a comprehensive clinical review.Orphanet journal of rare diseases · 2019Review
- Novel phenotype of achondroplasia due to biallelic FGFR3 pathogenic variants.American journal of medical genetics. Part A · 2018Article
- Achondroplasia: Development, pathogenesis, and therapy.Developmental dynamics : an official publication of the American Association of Anatomists · 2017Review
- Fibroblast growth factor signaling in skeletal development and disease.Genes & development · 2015Review
- FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met.Skeletal radiology · 2015Article
- Disease models: Statins give bone growth a boost.Nature · 2014Article
- The best-laid plans go oft awry: synaptogenic growth factor signaling in neuropsychiatric disease.Frontiers in synaptic neuroscience · 2014Review
- Novel Lys63-linked ubiquitination of IKKβ induces STAT3 signaling.Cell cycle (Georgetown, Tex.) · 2014Article
- Role of FGF/FGFR signaling in skeletal development and homeostasis: learning from mouse models.Bone research · 2014Review
- Cracking the molecular origin of intrinsic tyrosine kinase activity through analysis of pathogenic gain-of-function mutations.Cell reports · 2013Article
- Article
- Acanthosis nigricans associated with an adrenocortical tumor in a pediatric patient.Case reports in endocrinology · 2013Article
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Authors and funding
14 authors at 6 institutions in 1 country.
Funding
Abstract
We have identified a novel fibroblast growth factor receptor 3 (FGFR3) missense mutation in four unrelated individuals with skeletal dysplasia that approaches the severity observed in thanatophoric dysplasia type I (TD1). However, three of the four individuals developed extensive areas of acanthosis nigricans beginning in early childhood, suffer from severe neurological impairments, and have survived past infancy without prolonged life-support measures. The FGFR3 mutation (A1949T: Lys650Met) occurs at the nucleotide adjacent to the TD type II (TD2) mutation (A1948G: Lys650Glu) and results in a different amino acid substitution at a highly conserved codon in the kinase domain activation loop. Transient transfection studies with FGFR3 mutant constructs show that the Lys650Met mutation causes a dramatic increase in constitutive receptor kinase activity, approximately three times greater than that observed with the Lys650Glu mutation. We refer to the phenotype caused by the Lys650Met mutation as "severe achondroplasia with developmental delay and acanthosis nigricans" (SADDAN) because it differs significantly from the phenotypes of other known FGFR3 mutations.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.