ArticleAmerican journal of human genetics1995
Achondroplasia is defined by recurrent G380R mutations of FGFR3.
Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 156 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Issues Surrounding Prenatal Genetic Testing for Achondroplasia
Clinical and Molecular Manifestations of Human Skeletal Dysplasias and Short Stature
Who cites it
156 citing papers in PubMed, 1 synthesis or guideline pooled it, 483 citations in OpenAlex.
- Molecular, phenotypic aspects and therapeutic horizons of rare genetic bone disorders.BioMed research international · 2014Pooled it
- Genetic Analysis in Fetal Skeletal Dysplasias by Trio Whole-Exome Sequencing.BioMed research international · 2019Trial
- From FGFR3 Hyperactivation to Disease-Modifying Therapy in Pediatric Achondroplasia: Molecular Mechanisms, Clinical Evidence, and Emerging Treatments.Children (Basel, Switzerland) · 2026Review
- Pathways to Facilitate Early Recognition and Diagnosis of Hypochondroplasia.Advances in therapy · 2026Article
- Linking shox/shox2 deficiency with fgfr3 gain-of-function and natriuretic peptides.Frontiers in endocrinology · 2026Article
- Qualitative Research in Children and Parents of Children with Achondroplasia to Evaluate the Content Validity of Multiple Clinical Outcome Assessments.Advances in therapy · 2026Article
- The Value of Enhancing Sonographic Phenotyping to Improve the Diagnostic Yield of Noninvasive Prenatal Diagnosis (NIPD) for Achondroplasia.Prenatal diagnosis · 2025Article
- Simultaneous bilateral total knee replacement in a patient with achondroplasia and severe varus deformity: a case report.Journal of surgical case reports · 2025Article
- Advances in the mechanism and therapies of achondroplasia.Genes & diseases · 2025Review
- Fgfr3 enhancer deletion markedly improves all skeletal features in a mouse model of achondroplasia.The Journal of clinical investigation · 2025Article
- [Lenthening and reconstruction progress of achondroplastic short arm deformity].Zhongguo xiu fu chong jian wai ke za zhi = Zhongguo xiufu chongjian waike zazhi = Chinese journal of reparative and reconstructive surgery · 2025Review
- Three-dimensional craniofacial imaging in children with achondroplasia treated with vosoritide.Genetics in medicine open · 2025Article
- Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population.Nature communications · 2024Article
- Anatomical Characteristics of Cervicomedullary Compression on MRI Scans in Children with Achondroplasia.Journal of imaging · 2024Article
- A polarized FGF8 source specifies frontotemporal signatures in spatially oriented cell populations of cortical assembloids.Nature methods · 2024Article
- FGFR3 alterations in bladder cancer: Sensitivity and resistance to targeted therapies.Cancer communications (London, England) · 2024Review
- Review of patients with achondroplasia: a single-center's experience with follow-up and associated morbidities.European journal of pediatrics · 2024Article
- Natural disease course modeling of achondroplasia to evaluate the efficacy of recifercept in the absence of a placebo control arm in phase II study.CPT: pharmacometrics & systems pharmacology · 2024Article
- Article
- C and G are frequently mutated into T and A in coding regions of human genes.Molecular genetics and genomics : MGG · 2024Article
96 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 1 institution in 1 country.
Funding
Abstract
Genomic DNA from 154 unrelated individuals with achondroplasia was evaluated for mutations in the fibroblast growth factor receptor 3 (FGFR3) transmembrane domain. All but one, an atypical case, were found to have a glycine-to-arginine substitution at codon 380. Of these, 150 had a G-to-A transition at nt 1138, and 3 had a G-to-C transversion at this same position. On the basis of estimates of the prevalence of achondroplasia, the mutation rate at the FGFR3 1138 guanosine nucleotide is two to three orders of magnitude higher than that previously reported for tranversions and transitions in CpG dinucleotides. To date, this represents the most mutable single nucleotide reported in the human genome. The homogeneity of mutations in achondroplasia is unprecedented for an autosomal dominant disorder and may explain the relative lack of heterogeneity in the achondroplasia phenotype.
Indexed as
Identifiers
7847369PMC1801129W1597997618What OpenQuestion holds
Registered trials
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.