SCIENTIFIC BACKGROUND

COL2A1

Achondrogenesis is a disease that leads to neonatal dwarfism. Due to pulmonary hypoplasia, the children almost invariably die in utero or in the first few hours after birth. The incidence of the disease is estimated at approx. 1:40,000. The average birth weight of affected newborns is around 2,000 g. Characteristic features are extremely short stature (27-36 cm), dysproportionally large head, large protruding forehead, narrow nose, micrognathia, short neck and thorax, micromelia, protruding abdomen and a visible lack of ossification of the spine, pubis, and sacrum.

 

The disease is usually due to new variants in the COL2A1 gene with autosomal dominant expression, which lead to the substitution of glycine residues in the triple helix domain of type II collagen fibrils.

 

References

Barat-Houari et al. 2016, Hum Mutat 37:7 / Nagendran et al. 2012, Am J Med Genet A 158A:1204 / Nishimura et al. 2005, Hum Mutat 26:36 / Mayer et Marschall 2005, J Lab Med 29:162 / Faivre et al. 2004, Am J Med Genet 126A:308 / Korkko et al. 2000, Am J Med Genet, 92:95 / Borochowitz et al. 1996, Am J Med Genet, 24:273 / Chen et al. 1981, Am J Med Genet, 10:379

GENES

COL2A1
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