GH1
|
2003 |
NA |
AD |
Low height velocity and delayed bone age |
(3535. Millar DS, Lewis MD, Horan M, Newsway V, Easter TE, Gregory JW, et al. Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature. Hum Mutat. 2003;21(4):424-40.) |
GHSR
|
2006 |
2.0 to 2.4 |
AD/AR |
GHD and ISS in the same family |
(3737. Pantel J, Legendre M, Cabrol S, Hilal L, Hajaji Y, Morisset S, et al. Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature. J Clin Invest. 2006;116(3):760-8.,5555. Inoue H, Kangawa N, Kinouchi A, Sakamoto Y, Kimura C, Horikawa R, et al. Identification and functional analysis of novel human growth hormone secretagogue receptor (GHSR) gene mutations in Japanese subjects with short stature. J Clin Endocrinol Metab. 2011;96(2):E373-8.) |
GHR
|
1995 |
0 to 5.0 |
AD |
Laboratory suggestive of partial GH insensitivity |
(5656. Goddard AD, Covello R, Luoh SM, Clackson T, Attie KM, Gesundheit N, et al. Mutations of the growth hormone receptor in children with idiopathic short stature. The Growth Hormone Insensitivity Study Group. N Engl J Med. 1995;333(17):1093-8.,5757. El Kholy M, Mella P, Rashad M, Buzi F, Meazza C, Zahra S, et al. Growth hormone/IGF-I axis and growth hormone receptor mutations in idiopathic short stature. Horm Res Paediatr. 2011;76(5):300-6.) |
STAT5B
|
2018 |
NA |
AD |
Three families described with eczema and laboratory suggestive of partial GH insensitivity |
(4141. Scalco RC, Hwa V, Domene HM, Jasper HG, Belgorosky A, Marino R, et al. STAT5B mutations in heterozygous state have negative impact on height: another clue in human stature heritability. Eur J Endocrinol. 2015;173(3):291-6.) |
IGF1
|
2012 |
NA |
AD |
Birth weight and birth length in the lower normal range |
(4545. Batey L, Moon JE, Yu Y, Wu B, Hirschhorn JN, Shen Y, et al. A novel deletion of IGF1 in a patient with idiopathic short stature provides insight Into IGF1 haploinsufficiency. J Clin Endocrinol Metab. 2014;99(1):E153-9.,5858. Fuqua JS, Derr M, Rosenfeld RG, Hwa V. Identification of a novel heterozygous IGF1 splicing mutation in a large kindred with familial short stature. Horm Res Paediatr. 2012;78(1):59-66.) |
IGF1R
|
2003 |
1.6 to 2.0 |
AD |
Born small for gestational age in the most cases and elevated levels of IGF-1 |
(4646. Abuzzahab MJ, Schneider A, Goddard A, Grigorescu F, Lautier C, Keller E, et al. IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation. N Engl J Med. 2003;349(23):2211-22.,4747. Ester WA, van Duyvenvoorde HA, de Wit CC, Broekman AJ, Ruivenkamp CA, Govaerts LC, et al. Two short children born small for gestational age with insulin-like growth factor 1 receptor haploinsufficiency illustrate the heterogeneity of its phenotype. J Clin Endocrinol Metab. 2009;94(12):4717-27.,5959. Caliebe J, Broekman S, Boogaard M, Bosch CA, Ruivenkamp CA, Oostdijk W, et al. IGF1, IGF1R and SHOX mutation analysis in short children born small for gestational age and short children with normal birth size (idiopathic short stature). Horm Res Paediatr. 2012;77(4):250-60.) |
IGFALS
|
2004 |
NA |
AR |
Severe deficiency of IGF-1 and IGFBP-3 disproportional to the severity of short stature |
(4848. Domene HM, Bengolea SV, Martinez AS, Ropelato MG, Pennisi P, Scaglia P, et al. Deficiency of the circulating insulin-like growth factor system associated with inactivation of the acid-labile subunit gene. N Engl J Med. 2004;350(6):570-7.) |
PAPP-A2
|
2016 |
NA |
AR |
High levels of IGF-1 and IGFPB-3 |
(5050. Dauber A, Munoz-Calvo MT, Barrios V, Domene HM, Kloverpris S, Serra-Juhe C, et al. Mutations in pregnancy-associated plasma protein A2 cause short stature due to low IGF-I availability. EMBO Mol Med. 2016;8(4):363-74.) |