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  1. Artikel ; Online: Three novel IGFALS gene mutations resulting in total ALS and severe circulating IGF-I/IGFBP-3 deficiency in children of different ethnic origins.

    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

    Hormone research

    2009  Band 71, Heft 2, Seite(n) 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.
    Mesh-Begriff(e) 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
    Chemische Substanzen 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)
    Sprache Englisch
    Erscheinungsdatum 2009
    Erscheinungsland Switzerland
    Dokumenttyp Case Reports ; Journal Article
    ZDB-ID 124442-5
    ISSN 1423-0046 ; 0301-0163
    ISSN (online) 1423-0046
    ISSN 0301-0163
    DOI 10.1159/000183899
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  2. Artikel ; Online: Human acid-labile subunit deficiency: clinical, endocrine and metabolic consequences.

    Domené, Horacio M / Hwa, Vivian / Argente, Jesús / Wit, Jan M / Wit, Jaan M / Camacho-Hübner, Cecilia / Jasper, Héctor G / Pozo, Jesús / van Duyvenvoorde, Hermine A / Yakar, Shoshana / Fofanova-Gambetti, Olga V / Rosenfeld, Ron G

    Hormone research

    2009  Band 72, Heft 3, Seite(n) 129–141

    Abstract: The majority of insulin-like growth factor (IGF)-I and IGF-II circulate in the serum as a complex with the insulin-like growth factor binding protein (IGFBP)-3 or IGFBP-5, and an acid-labile subunit (ALS). The function of ALS is to prolong the half-life ... ...

    Abstract The majority of insulin-like growth factor (IGF)-I and IGF-II circulate in the serum as a complex with the insulin-like growth factor binding protein (IGFBP)-3 or IGFBP-5, and an acid-labile subunit (ALS). The function of ALS is to prolong the half-life of the IGF-I-IGFBP-3/IGFBP-5 binary complexes. Fourteen different mutations of the human IGFALS gene have been identified in 17 patients, suggesting that ALS deficiency may be prevalent in a subset of patients with extraordinarily low serum levels of IGF-I and IGFBP-3 that remain abnormally low upon growth hormone stimulation. Postnatal growth was clearly affected. Commonly, the height standard deviation score before puberty was between -2 and -3, and approximately 1.4 SD shorter than the midparental height SDS. Pubertal delay was found in 50% of the patients. Circulating IGF-II, IGFBP-1, -2 and -3 levels were reduced, with the greatest reduction observed for IGFBP-3. Insulin insensitivity was a common finding, and some patients presented low bone mineral density. Human ALS deficiency represents a unique condition in which the lack of ALS proteins results in the disruption of the entire IGF circulating system. Despite a profound circulating IGF-I deficiency, there is only a mild impact on postnatal growth. The preserved expression of locally produced IGF-I might be responsible for the preservation of linear growth near normal limits.
    Mesh-Begriff(e) Adolescent ; Adult ; Animals ; Birth Weight ; Body Height/genetics ; Bone and Bones/metabolism ; Calcification, Physiologic ; Carbohydrate Metabolism ; Carrier Proteins/genetics ; Child ; Child, Preschool ; Female ; Frameshift Mutation ; Glycoproteins/deficiency ; Glycoproteins/genetics ; Humans ; Infant, Newborn ; Insulin-Like Growth Factor Binding Protein 1/blood ; Insulin-Like Growth Factor Binding Protein 3/blood ; Insulin-Like Growth Factor I/metabolism ; Insulin-Like Growth Factor II/metabolism ; Male ; Mice ; Mice, Knockout ; Mutation, Missense
    Chemische Substanzen Carrier Proteins ; Glycoproteins ; Insulin-Like Growth Factor Binding Protein 1 ; Insulin-Like Growth Factor Binding Protein 3 ; insulin-like growth factor binding protein, acid labile subunit ; Insulin-Like Growth Factor I (67763-96-6) ; Insulin-Like Growth Factor II (67763-97-7)
    Sprache Englisch
    Erscheinungsdatum 2009
    Erscheinungsland Switzerland
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 124442-5
    ISSN 1423-0046 ; 0301-0163
    ISSN (online) 1423-0046
    ISSN 0301-0163
    DOI 10.1159/000232486
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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    Verfügbar in ZB MED Köln/Königswinter

    Zs.A 414: Hefte anzeigen Standort:
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    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  3. Artikel ; Online: Impact of heterozygosity for acid-labile subunit (IGFALS) gene mutations on stature: results from the international acid-labile subunit consortium.

    Fofanova-Gambetti, Olga V / Hwa, Vivian / Wit, Jan M / Domene, Horacio M / Argente, Jesús / Bang, Peter / Högler, Wolfgang / Kirsch, Susan / Pihoker, Catherine / Chiu, Harvey K / Cohen, Laurie / Jacobsen, Christina / Jasper, Hector G / Haeusler, Gabriele / Campos-Barros, Angel / Gallego-Gómez, Elena / Gracia-Bouthelier, Ricardo / van Duyvenvoorde, Hermine A / Pozo, Jesús /
    Rosenfeld, Ron G

    The Journal of clinical endocrinology and metabolism

    2010  Band 95, Heft 9, Seite(n) 4184–4191

    Abstract: Context: To date, 16 IGFALS mutations in 21 patients with acid-labile subunit (ALS) deficiency have been reported. The impact of heterozygosity for IGFALS mutations on growth is unknown.: Objective: The study evaluates the impact of heterozygous ... ...

    Abstract Context: To date, 16 IGFALS mutations in 21 patients with acid-labile subunit (ALS) deficiency have been reported. The impact of heterozygosity for IGFALS mutations on growth is unknown.
    Objective: The study evaluates the impact of heterozygous expression of IGFALS mutations on phenotype based on data collected by the International ALS Consortium.
    Subjects/methods: Patient information was derived from the IGFALS Registry, which includes patients with IGFALS mutations and family members who were either heterozygous carriers or homozygous wild-type. Within each family, the effect of IGFALS mutations on stature was analyzed as follows: 1) effect of two mutant alleles (2ALS) vs. wild-type (WT); 2) effect of two mutant alleles vs. one mutant allele (1ALS); and 3) effect of one mutant allele vs. wild-type. The differences in height sd score (HtSDS) were then pooled and evaluated.
    Results: Mean HtSDS in 2ALS was -2.31 +/- 0.87 (less than -2 SDS in 62%); in 1ALS, -0.83 +/- 1.34 (less than -2 SDS in 26%); and in WT, -1.02 +/- 1.04 (less than -2 SDS in 12.5%). When analyses were performed within individual families and pooled, the difference in mean HtSDS between 2ALS and WT was -1.93 +/- 0.79; between 1ALS and WT, -0.90 +/- 1.53; and between 2ALS and 1ALS, -1.48 +/- 0.83.
    Conclusions: Heterozygosity for IGFALS mutations results in approximately 1.0 SD height loss in comparison with wild type, whereas homozygosity or compound heterozygosity gives a further loss of 1.0 to 1.5 SD, suggestive of a gene-dose effect. Further studies involving a larger cohort are needed to evaluate the impact of heterozygous IGFALS mutations not only on auxology, but also on other aspects of the GH/IGF system.
    Mesh-Begriff(e) Adolescent ; Adult ; Body Height/genetics ; Carrier Proteins/genetics ; Case-Control Studies ; Child ; Child, Preschool ; Consensus Development Conferences as Topic ; Family ; Female ; Glycoproteins/genetics ; Growth Disorders/genetics ; Heterozygote ; Humans ; International Cooperation ; Loss of Heterozygosity/genetics ; Loss of Heterozygosity/physiology ; Male ; Models, Biological ; Mutation/physiology ; Young Adult
    Chemische Substanzen Carrier Proteins ; Glycoproteins ; insulin-like growth factor binding protein, acid labile subunit
    Sprache Englisch
    Erscheinungsdatum 2010-09
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 3029-6
    ISSN 1945-7197 ; 0021-972X
    ISSN (online) 1945-7197
    ISSN 0021-972X
    DOI 10.1210/jc.2010-0489
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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    Uh III Zs.134: Hefte anzeigen Standort:
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  4. Artikel: Three Novel ; Gene Mutations Resulting in Total ALS and Severe Circulating IGF-I/IGFBP-3 Deficiency in Children of Different Ethnic Origins

    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.

    Hormone Research in Paediatrics

    2009  Band 71, Heft 2, Seite(n) 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 ... ...

    Körperschaft Department of Pediatrics, NRC5, Oregon Health and Science University, Portland, Oreg., USA Hospital for Sick Children, Toronto, Ont., Canada Children’s Hospital & Regional Medical Center, Seattle, Wash., USA Diana, Princess of Wales Children’s Hospital, Birmingham, UK Division of Endocrinology, Children’s Hospital Boston, Boston, Mass Lucile Packard Foundation for Children’s Health, Palo Alto, Calif., and Department of Pediatrics, Stanford University, Stanford, Calif., USA
    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.
    Schlagwörter Primary IGF deficiency ; <italic>IGFALS</italic> gene mutations ; Acid-labile subunit deficiency
    Sprache Englisch
    Erscheinungsdatum 2009-01-08
    Verlag S. Karger AG
    Erscheinungsort Basel, Switzerland
    Dokumenttyp Artikel
    Anmerkung Original Paper
    ZDB-ID 2537278-6
    ISSN 1663-2826 ; 1663-2818
    ISSN (online) 1663-2826
    ISSN 1663-2818
    DOI 10.1159/000183899
    Datenquelle Karger Verlag

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    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
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  5. Artikel: Human Acid-Labile Subunit Deficiency: Clinical, Endocrine and Metabolic Consequences

    Domené, Horacio M. / Hwa, Vivian / Argente, Jesús / Wit, Jan M. / Camacho-Hübner, Cecilia / Jasper, Héctor G. / Pozo, Jesús / van Duyvenvoorde, Hermine A. / Yakar, Shoshana / Fofanova-Gambetti, Olga V. / Rosenfeld, Ron G.

    Hormone Research in Paediatrics

    2009  Band 72, Heft 3, Seite(n) 129–141

    Abstract: The majority of insulin-like growth factor (IGF)-I and IGF-II circulate in the serum as a complex with the insulin-like growth factor binding protein (IGFBP)-3 or IGFBP-5, and an acid-labile subunit (ALS). The function of ALS is to prolong the half-life ... ...

    Körperschaft Centro de Investigaciones Endocrinológicas (CEDIE-CONICET), Hospital de Niños R. Gutiérrez, Buenos Aires, Argentina Hospital Infantil Universitario Niño Jesús, Departament of Endocrinology, Universidad Autónoma de Madrid, Departament of Pediatrics y CIBER Fisiopatología, Obesidad y Nutrición, Instituto de Salud Carlos III, Madrid, Spain Pediatric Endocrinology, Women and Child Health, Karolinska Institute, Stockholm, Sweden;Departments of Pediatrics Endocrinology and Metabolism, and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands Department of Pediatrics, Oregon Health and Science University, Portland, Oreg., and Endocrine Divisions, Mount Sinai School of Medicine, New York, N.Y., USA
    Abstract The majority of insulin-like growth factor (IGF)-I and IGF-II circulate in the serum as a complex with the insulin-like growth factor binding protein (IGFBP)-3 or IGFBP-5, and an acid-labile subunit (ALS). The function of ALS is to prolong the half-life of the IGF-I-IGFBP-3/IGFBP-5 binary complexes. Fourteen different mutations of the human IGFALS gene have been identified in 17 patients, suggesting that ALS deficiency may be prevalent in a subset of patients with extraordinarily low serum levels of IGF-I and IGFBP-3 that remain abnormally low upon growth hormone stimulation. Postnatal growth was clearly affected. Commonly, the height standard deviation score before puberty was between –2 and –3, and approximately 1.4 SD shorter than the midparental height SDS. Pubertal delay was found in 50% of the patients. Circulating IGF-II, IGFBP-1, -2 and -3 levels were reduced, with the greatest reduction observed for IGFBP-3. Insulin insensitivity was a common finding, and some patients presented low bone mineral density. Human ALS deficiency represents a unique condition in which the lack of ALS proteins results in the disruption of the entire IGF circulating system. Despite a profound circulating IGF-I deficiency, there is only a mild impact on postnatal growth. The preserved expression of locally produced IGF-I might be responsible for the preservation of linear growth near normal limits.
    Schlagwörter <italic>IGFALS </italic>gene mutations ; Acid-labile subunit ; Insulin-like growth factor-I ; Insulin-like growth factor binding protein ; Growth hormone insensitivity ; Insulin insensitivity
    Sprache Englisch
    Erscheinungsdatum 2009-09-01
    Verlag S. Karger AG
    Erscheinungsort Basel, Switzerland
    Dokumenttyp Artikel
    Anmerkung Mini Review
    ZDB-ID 2537278-6
    ISSN 1663-2826 ; 1663-2818
    ISSN (online) 1663-2826
    ISSN 1663-2818
    DOI 10.1159/000232486
    Datenquelle Karger Verlag

    Zusatzmaterialien

    Kategorien

    Verfügbar in ZB MED Köln/Königswinter

    Zs.A 414: Hefte anzeigen Standort:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

    Über subito bestellen

    Dieser Service ist kostenpflichtig (siehe Lieferbedingungen von subito). Bestellungen, die einen Artikel nebst Supplementary Material umfassen, werden grundsätzlich wie mehrfache Bestellungen bearbeitet. Gebühren fallen in diesen Fällen für jede einzelne Bestellung an.

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