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- W1990043027 abstract "<b><i>Background:</i></b> Homozygous mutations in acid-labile subunit <i>(IGFALS)</i> gene result in short stature, very low circulating levels of acid-labile subunit (ALS), insulin growth factor 1 (IGF1) and insulin growth factor binding protein 3 (IGFBP3) and a poor response to growth hormone (GH). The impact of <i>IGFALS </i>mutations heterozygosity on growth is unknown. <b><i>Patient and Methods:</i></b> We describe a 10-year-old girl with severe short stature (height -3.2 SDS), heterozygous for a new <i>IGFALS</i> mutation. <b><i>Results:</i></b> The girl showed low circulating IGF1, IGFBP3 and ALS levels and normal GH secretion. We found a novel heterozygous frameshift <i>IGFALS</i> mutation (c.1283delA, p.Gln428Argfs*14). Size-exclusion chromatography showed a reduction of the IGF1, IGFBP3 and ALS 150-kDa ternary complex (by about 55%) compared to a control. An IGF-1 generation test, with two different GH dosages, showed a good response in term of increase in IGF1 and in formation of the ternary complex at size-exclusion chromatography. Clinical response after 6 months of therapy with GH was satisfactory (height velocity increased from 3 to 8 cm/year). <b><i>Conclusion:</i></b> We suggest that (1) heterozygous <i>IGFALS</i> mutations can be responsible for a subset of patients with severe short stature (below -2.5 SDS), low IGF1 (below -2 SDS) and normal GH secretion, and (2) the identification by <i>IGFALS</i> molecular screening of this subset of patients could help in the administration of the appropriate therapy." @default.
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- W1990043027 date "2013-12-12" @default.
- W1990043027 modified "2023-09-27" @default.
- W1990043027 title "Clinical Features of a New Acid-Labile Subunit <b><i>(IGFALS)</i></b> Heterozygous Mutation: Anthropometric and Biochemical Characterization and Response to Growth Hormone Administration" @default.
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- W1990043027 doi "https://doi.org/10.1159/000355017" @default.
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