what gene was invovle in the Achondroplasia?

Answer 1

fibroblast growth factor receptor gene 3...causes decreased endochondral ossification, decreased proliferation of chondrocytes, decreased cartilage matrix production, and decreased cellular hypertrophy

Answer 2

Achondroplasia is caused by mutations in the gene for fibroblast growth factor receptor-3 (FGFR3). The gene has been mapped to band 4p16.3. The common mutations cause a gain of function of the FGFR3 gene, resulting in decreased endochondral ossification, inhibited proliferation of chondrocytes in growth plate cartilage, decreased cellular hypertrophy, and decreased cartilage matrix production. G1138A and G1138C mutations account for approximately 99% of the mutations resulting in a specific amino acid substitution (G380R). A rare mutation is the novel missense mutation (Lys650Met) in the tyrosine kinase region, which results in a disorder termed severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN). Another mutation, Gly380Arg, has been reported in a Spanish population.

Answer 3

An autosomal dominant genetic trait, achondroplasia occurs as a result of a fresh (new) spontaneous change (mutation) in genetic material in about 90 percent of cases. In achondroplasia, affected individuals have impaired ability to form bone from cartilage

Answer 4

It is an autosomal domoinant condition caused by a mutation in the gene that codes for fibroblast growth factor receptor 3 (FGFR3) normally expressed in the cartilage & the brain