Three novel IGF1R mutations in microcephalic patients with prenatal and postnatal growth impairment
- Juanes, Matías Hernan
- Guercio, Gabriela Viviana
- Marino, Roxana Marcela
- Berensztein, Esperanza Beatriz
- Warman, Diana Mónica
- Ciaccio, Marta
- Gil, Silvia
- Bailez, Marcela
- Rivarola, Marco Aurelio
- Belgorosky, Alicia
DOIAbstract
Background: IGF1R gene mutations have been associated with varying degrees of intrauterine and postnatal growth retardation, and microcephaly. Objective To identify and characterize IGF1R gene variations in a cohort of 28 Argentinean children suspected of having IGF-1 insensitivity, who were selected on the basis of the association of pre/postnatal growth failure and microcephaly. Methods The coding sequence and flanking intronic regions of IGF1R gene were amplified and directly sequenced. Functional characterization was performed by two in vitro assays: 1) [Methyl-3H] thymidine incorporation into DNA in fibroblast cell primary cultures from patients and controls treated with IGF-1 for 16-24 h. 2) PI3K/Akt pathway was evaluated with phospho...
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