PCNT and Severe short stature: ADAMST15 has been shown to be significantly aggregated in families with IA.23 It might be associated with IA formation through abnormal transcription of metalloproteinases.24 Two rare variants of the PCNT gene have been found in familial IA cases.25 Deletions and mutations of this gene cause a type of dwarfism associated with IA in up to 20%.25 This indicates the genetic complexity of this disease.