In other species: horse , pig

Possibly relevant human trait(s) and/or gene(s) (MIM number): 133701 (trait)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Dominant

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2018

Molecular basis: Friedenberg et al. (2018) reported a likely causal variant as "One heterozygous variant (c.969C > A) is predicted to result in a stop codon in exon 5 of the [EXT2] gene. Sanger sequencing identified the identical mutation in all affected offspring. The mutation was absent in the unaffected offspring, both parents, all available grandparents, and 26 healthy unrelated American Staffordshire Terriers." These same authors note that "Because this mutation arose de novo, the identical mutation is unlikely to be the cause of osteochondromatosis in other dogs. However, de novo mutations in EXT2 are common in humans with osteochondromatosis, and by extension, it is possible that dogs with osteochondromatosis could be identified by sequencing the entire EXT2 gene."

Breed: American Staffordshire Terrier.

Associated gene: