Achondroplasia

Roshni Sonawane
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What is Achondroplasia?
Achondroplasia is the prototype and most common of the human chondrodysplasias. Chondrodysplasias are human bone genetic disorders causing a defect in the endochondral ossification at the growth plate (formation of bone from cartilage), resulting in skeletal malformations. Achondroplasia is the most frequent cause of short-limb dwarfism. It occurs in 1 out of every 10,000–30,000 live births.

Mutations in the Genes that are expressed in the cartilaginous growth plates are responsible for the occurrence of various chondrodysplasias. These genes normally play a fundamental role in the utilization of the cartilage for bone growth. Mutations in these genes compromise both the degree and quality of skeletal growth. Achondroplasia, in particular, is caused by heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. It occurs as a spontaneous (de novo) mutation in almost 90% of cases, which means that parents are not affected. Advanced paternal age is considered a predisposing factor in these instances. Less commonly, familial cases have been reported. Here it is inherited as an autosomal dominant disease with virtually complete penetrance. In over 98% of patients with a mutation, the glycine residue replaces arginine at position 380 (Gly 380 Arg). It is described as a gain-of-function mutation which exaggerates the signal output of the FGFR3. FGFR3 is a receptor tyrosine kinase that negatively regulates growth plate activity and linear bone growth. FGFR3 seems to inhibit the proliferation and hypertrophy of growth plate chondrocytes.


References
Achondroplasia Achondroplasia 04/04/2016
Clinical Features of Achondroplasia >>
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