ALS deficiency due to a novel and two already described IGFALS gene mutations in an unusual non consanguineous family: Two compound heterozygous (father and son) and two heterozygous carriers (brother and mother)

SCAGLIA, PAULA; KESELMAN, ANA; MARTUCCI, LUCIA; KARABATAS, LILIANA; BALLERINI, MARIA GABRIELA; DOMENE, SABINA; ACOSTA, JOHANA; JASPER, HECTOR; DOMENE, HORACIO

Dublin

Congreso; 53rd. Annual ESPE Meeting; 2014

European Society for Pediatric Endocrinology

Introduction: Complete ALS deficiency (ALS-D), caused by inactivating mutations in both IGFALS gene alleles, presents severe IGF-I and IGFBP-3 deficiencies associated to moderate growth retardation. Aim: To characterize the molecular defect in a family where the index case and his father presented short stature and IGF-I and IGFBP-3 deficiencies. Methods: IGF-I, IGFBP-3 and GH serum levels were determined by CLIA, ALS by ELISA and Western immunoblot (WIB). IGFALS gene was PCR amplified and automatically sequenced. Results: We studied a short boy (CA 2.4 yr, 81.5 cm, -2.9 SDS). He presented normal GH secretion (GHmax: 15.3 ng/ml), undetectable IGF-I (