Article ; Online: Three novel IGFALS gene mutations resulting in total ALS and severe circulating IGF-I/IGFBP-3 deficiency in children of different ethnic origins.
2009 Volume 71, Issue 2, Page(s) 100–110
Abstract: 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 ...
Abstract | 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 5-year-old girl of Jewish/Eastern European (Polish, Russian, Austrian-Hungarian)/Icelandic/European (French, English) ancestry. The reported cases had moderate short stature (-2.91 and -2.14 SDS, respectively), nondetectable serum ALS and extremely low serum concentrations of IGF-I and IGFBP-3. Case 1 harbored a novel homozygous 1308_1316 dup9 mutation in a highly conserved leucine-rich repeat (LRR) 17 motif of exon 2, representing an in-frame insertion of 3 amino acids, LEL. Case 2 harbored a novel heterozygous C60S/L244F mutation in exon 2, located within a highly conserved LRR 1 and LRR 9, respectively. Conclusions: The identification of additional novel IGFALS mutations, resulting in severe IGF-I/IGFBP-3 and ALS deficiencies, supports IGFALS as a candidate gene of the GH/IGF system, implicated in the pathogenesis of primary IGF deficiency, and represents an important part of its differential diagnosis. |
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MeSH term(s) | Carrier Proteins/genetics ; Child ; Child, Preschool ; Female ; Genetic Diseases, Inborn/genetics ; Glycoproteins/genetics ; Humans ; Indians, Central American ; Insulin-Like Growth Factor Binding Protein 3 ; Insulin-Like Growth Factor Binding Proteins/genetics ; Insulin-Like Growth Factor I/genetics ; Jews ; Male ; Mutation |
Chemical Substances | Carrier Proteins ; Glycoproteins ; IGFBP3 protein, human ; Insulin-Like Growth Factor Binding Protein 3 ; Insulin-Like Growth Factor Binding Proteins ; insulin-like growth factor binding protein, acid labile subunit ; Insulin-Like Growth Factor I (67763-96-6) |
Language | English |
Publishing date | 2009 |
Publishing country | Switzerland |
Document type | Case Reports ; Journal Article |
ZDB-ID | 124442-5 |
ISSN | 1423-0046 ; 0301-0163 |
ISSN (online) | 1423-0046 |
ISSN | 0301-0163 |
DOI | 10.1159/000183899 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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