The insensitivity of the insulin-like growth factor receptor is caused by loss-of-funtion mutations of the IGF1R gene. The pattern of inheritance is variable. Depending on the type of mutation, it may be autosomal dominant or recessive.
Labtests show rather elevated EGF1 levels and a normal response to growth hormone stimulation.
|Growth hormone insensitivity|
|Growth hormone insensitivity with immunodeficiency|
|Insulin-like growth factor 1 deficiency|
|Insulin-like growth factor 1 resistance|
|Insulin-like growth factor 1 transport protein deficiency|
Abuzzahab MJ et al. (2003) IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation.
Courtens W et al. (2000) Further evidence for autosomal dominant inheritance and ectodermal abnormalities in Kabuki syndrome.
van Haelst MM et al. (2000) Unexpected life-threatening complications in Kabuki syndrome.
Matsune K et al. (2001) Craniofacial and dental characteristics of Kabuki syndrome.
Selicorni A et al. (2001) Biliary atresia and Kabuki syndrome: another case with long-term follow-up.
Digilio MC et al. (2001) Congenital heart defects in Kabuki syndrome.
McGaughran J et al. (2001) Clinical phenotypes of nine cases of Kabuki syndrome from New Zealand.
Kurosawa K et al. (2002) Patellar dislocation in Kabuki syndrome.