Heterozygous IGFALS Gene Variants in Idiopathic Short Stature and Normal Children: Impact on Height and the IGF System
- Domene, Horacio Mario
- Scaglia, Paula Alejandra
- Martinez, Alicia Susana
- Keselman, Ana C.
- Karabatas, Liliana Margarita
- Pipman, Viviana R.
- Bengolea, Sonia V.
- Guida, María Clara
- Ropelato, María G.
- Ballerini, María G.
- Lescano, Eva M.
- Blanco, Miguel A.
- Heinrich, Juan J.
- Rey, Rodolfo Alberto
- Jasper, Hector Guillermo
DOIAbstract
Background: In acid-labile subunit (ALS)-deficient families, heterozygous carriers of IGFALS gene mutations are frequently shorter than their wild-type relatives, suggesting that IGFALS haploinsufficiency could result in short stature. We have characterized IGFALS gene variants in idiopathic short stature (ISS) and in normal children, determining their impact on height and the IGF system. Patients and Methods: In 188 normal and 79 ISS children levels of IGF-1, IGFBP-3, ALS, ternary complex formation (TCF) and IGFALS gene sequence were determined. Results: In sum, 9 nonsynonymous or frameshift IGFALS variants (E35Gfs*17, G83S, L97F, R277H, P287L, A330D, R493H, A546V and R548W) were found in 10 ISS children and 6 variants (G170S, V239M, N276S...
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