Achondrogenesis type II

Definition:

Achondrogenesis Type II (ACG2) is a lethal skeletal disorder caused by dominant mutations in the type II collagen gene (COL2A1). ACG2 is the most severe of the phenotypic spectrum of COL2A1 mutations.

References:

[1]. F Forzano, et al. A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and "patchy" expression in the mosaic father. Am J Med Genet A. 2007 Dec 1;143A(23):2815-20. [Content Brief]

[2]. Laurence Faivre, et al. Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism. Am J Med Genet A. 2004 Apr 30;126A(3):308-12. [Content Brief]

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