Achondroplasia - GeneReviews® - NCBI Bookshelf - National …
1998年10月12日 · Homozygous achondroplasia, caused by biallelic pathogenic variants at nucleotide 1138 of FGFR3, is a severe disorder with radiologic changes qualitatively different from those of achondroplasia. Early death results from respiratory insufficiency because of the small thoracic cage and neurologic deficit from cervicomedullary stenosis [ Hall 1988 ].
Achondroplasia - StatPearls - NCBI Bookshelf
2023年8月23日 · Achondroplasia is the most common skeletal dysplasia found in humans, accounting for 90% of cases of disproportionate short stature. It is caused by a mutation of the fibroblast growth factor receptor 3 (FGFR3) and has an autosomal dominant inheritance.
International Consensus Statement on the diagnosis ... - Nature
2021年11月26日 · The condition is caused by a common, recurring, gain-of-function mutation in FGFR3, the gene that encodes fibroblast growth factor receptor 3. This mutation leads to impaired endochondral...
Current and emerging therapies for Achondroplasia: The dawn of ...
2023年5月3日 · FGFR3 regulates cartilage tissue formation through two major downstream pathways. Firstly, FGFR3 prevents chondrocyte proliferation by inducing cell cycle suppressor genes such as p21 Cip1/Waf1 through STAT1 signaling 14.
Achondroplasia: Development, pathogenesis, and therapy
Autosomal dominant mutations in fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia (Ach), the most common form of dwarfism in humans, and related chondrodysplasia syndromes that include hypochondroplasia (Hch), severe achondroplasia with developmental delay and acanthosis nigricans (SA …
About Achondroplasia - National Human Genome Research …
2016年7月15日 · Achondroplasia is caused by a gene alteration (mutation) in the FGFR3 gene. The FGFR3 gene makes a protein called fibroblast growth factor receptor 3 that is involved in converting cartilage to bone. FGFR3 is the only gene known to …
New treatments for children with achondroplasia - The Lancet
In this Review, we outline the clinical and genetic hallmarks of achondroplasia and related FGFR3 conditions, the natural history and impact of achondroplasia over a patient's lifespan, and diagnosis and management options. We then focus on the new and emerging drug therapies that target the underlying pathogenesis of this condition.
New developments in the management of achondroplasia
2020年3月6日 · Achondroplasia is caused by a heterozygous, activating mutation in the fibroblast growth factor receptor‑3 (FGFR3) gene at position 1138. Two specific mutations (1138G > A and 1138G > C) lead to an arginine to glycine substitution at position 380 (G380R) in the transmembrane domain of the FGFR3 protein, which permanently activates the ...
Rapid detection of FGFR3 gene mutation in achondroplasia by …
2004年8月1日 · Achondroplasia comes from the genetic point mutations in the fibroblastic growth factor receptor 3 gene (FGFR3), which enables abnormal cartilage growth-plate differentiation and insufficient...
Achondroplasia - The Lancet
Achondroplasia is the most common form of short limb dwarfism in human beings, affecting more than 250 000 individuals worldwide. More than 95% of patients have the same point mutation in the gene for fibroblast growth factor receptor 3 (FGFR3) …