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Fofanova Gambetti, Olga V.
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Hwa, Vivian
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Wit, Jan M.
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Domene, Horacio Mario
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Argente, Jesús
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Bang, Peter
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Wolfgang, Hogler
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Kirsh, Susan
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Pihoker, Catherine
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Chiu, Harvey K.
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Cohen, Laurie
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Jacobsen, Christina
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Jasper, Hector Guillermo
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Haeusler, Gabriele
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Campos Barros, Angel
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Gallego Gómez, Elena
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Gracia Bouthelier, Ricardo
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van Duyvenvoorde, Hermine A.
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Pozo, Jesús
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Rosenfeld, Ron G.
dc.date.available
2020-04-21T16:06:42Z
dc.date.issued
2010-09
dc.identifier.citation
Fofanova Gambetti, Olga V.; Hwa, Vivian; Wit, Jan M.; Domene, Horacio Mario; Argente, Jesús; et al.; Impact of Heterozygosity for Acid-Labile Subunit (IGFALS) Gene Mutations on Stature: Results from the International Acid-Labile Subunit Consortium; Endocrine Society; Journal of Clinical Endocrinology and Metabolism; 95; 9; 9-2010; 4184-4191
dc.identifier.issn
0021-972X
dc.identifier.uri
http://hdl.handle.net/11336/103168
dc.description.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 ofIGFALSmutations 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.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Endocrine Society
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dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
Acide labile subunit
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IGFALS gene mutations
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heterozygosity
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heterozygous carriers
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ALS Consortium
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IGFALS Registry
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Endocrinología y Metabolismo
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Medicina Clínica
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CIENCIAS MÉDICAS Y DE LA SALUD
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dc.title
Impact of Heterozygosity for Acid-Labile Subunit (IGFALS) Gene Mutations on Stature: Results from the International Acid-Labile Subunit Consortium
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info:eu-repo/semantics/article
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info:ar-repo/semantics/artículo
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info:eu-repo/semantics/publishedVersion
dc.date.updated
2020-02-07T13:47:49Z
dc.identifier.eissn
1945-7197
dc.journal.volume
95
dc.journal.number
9
dc.journal.pagination
4184-4191
dc.journal.pais
Estados Unidos
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Fil: Fofanova Gambetti, Olga V.. Oregon Health & Science University; Estados Unidos
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Fil: Hwa, Vivian. Oregon Health & Science University; Estados Unidos
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Fil: Wit, Jan M.. Leiden University. Leiden University Medical Center.; Países Bajos
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Fil: Domene, Horacio Mario. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad Autonoma de Buenos Aires. Hospital General de Niños "ricardo Gutierrez". Departamento de Medicina.; Argentina
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Fil: Argente, Jesús. Hospital Infantil Universitario Niño Jesús; España. Universidad Autónoma de Madrid; España
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Fil: Bang, Peter. Karolinska Institute and University Hospital; Suecia
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Fil: Wolfgang, Hogler. Birmingham Children’s Hospital; Reino Unido
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Fil: Kirsh, Susan. University Of Toronto. Hospital For Sick Children; Canadá
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Fil: Pihoker, Catherine. Children’s Hospital and Regional Medical Center; Estados Unidos
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Fil: Chiu, Harvey K.. Children’s Hospital and Regional Medical Center; Estados Unidos
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Fil: Cohen, Laurie. Children’s Hospital Boston; Estados Unidos
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Fil: Jacobsen, Christina. Children’s Hospital Boston; Estados Unidos
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Fil: Jasper, Hector Guillermo. Gobierno de la Ciudad Autonoma de Buenos Aires. Hospital General de Niños "ricardo Gutierrez". Departamento de Medicina.; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
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Fil: Haeusler, Gabriele. Medical University of Vienna ; Austria
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Fil: Campos Barros, Angel. Hospital Universitario La Paz; España. Instituto de Salud Carlos III; España
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Fil: Gallego Gómez, Elena. Hospital Universitario 12 de Octubre; España
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Fil: Gracia Bouthelier, Ricardo. Hospital Universitario La Paz; España
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Fil: van Duyvenvoorde, Hermine A.. Leiden University. Leiden University Medical Center.; Países Bajos
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Fil: Pozo, Jesús. Hospital Infantil Universitario Niño Jesús; España. Universidad Autónoma de Madrid; España
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Fil: Rosenfeld, Ron G.. Oregon Health & Science University; Estados Unidos
dc.journal.title
Journal of Clinical Endocrinology and Metabolism
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dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1210/jc.2010-0489
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://academic.oup.com/jcem/article/95/9/4184/2835276
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