Article
Three novel IGFALS gene mutations resulting in total ALS and severe circulating IGF-I/IGFBP-3 deficiency in children of different ethnic origins.
Hormone research - 1 Jan 2009
Fofanova-Gambetti Olga V, Hwa Vivian, Kirsch Susan, Pihoker Catherine, Chiu Harvey K, Högler Wolfgang, Cohen Laurie E, Jacobsen Christina, Derr Michael A, Rosenfeld Ron G
Abstract excerpt
BACKGROUND/AIMS: To date, four mutations in the IGFALS gene have been reported. We now describe two children of different ethnic background with total acid-labile subunit (ALS) and severe circulating IGF-I/IGFBP-3 deficiencies resulting from three novel mutations in the IGFALS gene. PATIENTS/METHODS: Serum and DNA of patients were analyzed. RESULTS: Case 1 is a 12-year-old boy of Mayan origin. Case 2 is a...
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