Short stature associated with a novel mutation in the aggrecan gene: A case report and literature review.

Background: Mutations in the aggrecan () gene are identified in patients with: spondyloepiphyseal dysplasia, Kimberley type; short stature with advanced bone age (BA); in the presence or absence of heterozygous mutation-induced early-onset osteoarthritis and/or osteochondritis dissecans; and spondyloepimetaphyseal dysplasia, ACAN type. Heterozygous mutations contribute to spondyloepiphyseal dysplasia, Kimberley type (MIM#608361), which is a milder skeletal dysplasia. In contrast, homozygous mutations cause a critical skeletal dysplasia, which is called spondyloepimetaphyseal dysplasia, ACAN type (MIM#612813).