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Fanconi Anemia and Laron Syndrome

dc.creatorRocio García De la Garza
dc.creatorGabriel Amador Aguirre
dc.creatorMariano García-Magariño Alonso
dc.creatorMaría Inmaculada Castilla de Cortázar Larrea
dc.creatorJulieta Rodríguez de Ita
dc.creatorFabiola Castorena Torres
dc.creatorMartha Irma Elizondo Leal
dc.date2017
dc.date.accessioned2018-10-18T20:12:56Z
dc.date.available2018-10-18T20:12:56Z
dc.identifier.issn29629
dc.identifier.doi10.1016/j.amjms.2017.02.001
dc.identifier.urihttp://hdl.handle.net/11285/630333
dc.descriptionBackground Fanconi anemia (FA) is a condition characterized by genetic instability and short stature, which is due to growth hormone (GH) deficiency in most cases. However, no apparent relationships have been identified between FA complementation group genes and GH. In this study, we thereby considered an association between FA and Laron syndrome (LS) (insulin-like growth factor 1 [IGF-1] deficiency). Methods A 21-year-old female Mexican patient with a genetic diagnosis of FA was referred to our research department for an evaluation of her short stature. Upon admission to our facility, her phenotype led to a suspicion of LS; accordingly, serum levels of IGF-1 and IGF binding protein 3 were analyzed and a GH stimulation test was performed. In addition, we used a next-generation sequencing approach for a molecular evaluation of FA disease-causing mutations and genes involved in the GH-IGF signaling pathway. Results Tests revealed low levels of IGF-1 and IGF binding protein 3 that remained within normal ranges, as well as a lack of response to GH stimulation. Sequencing confirmed a defect in the GH receptor signaling pathway. Conclusions To the best of our knowledge, this study is the first to suggest an association between FA and LS. We propose that IGF-1 administration might improve some FA complications and functions based upon IGF-1 beneficial actions observed in animal, cell and indirect clinical models: erythropoiesis modulation, immune function improvement and metabolic regulation. © 2017 The Authors
dc.languageeng
dc.publisherElsevier B.V.
dc.relationhttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85015995386&doi=10.1016%2fj.amjms.2017.02.001&partnerID=40&md5=692dea1540e5c1cdcea802d8d4e5017e
dc.relationInvestigadores
dc.relationEstudiantes
dc.rightsinfo:eu-repo/semantics/openAccess
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0
dc.sourceAmerican Journal of the Medical Sciences
dc.subjectFanconi anemia group A protein
dc.subjectFanconi anemia group G protein
dc.subjectFanconi anemia group I protein
dc.subjectFanconi anemia group L protein
dc.subjectgenomic DNA
dc.subjectgrowth hormone
dc.subjectIGFBP3 protein
dc.subjectPALB2 protein
dc.subjectprotein
dc.subjectsomatomedin binding protein 3
dc.subjectsomatomedin C
dc.subjectSTAT5b protein
dc.subjectunclassified drug
dc.subjectgrowth hormone receptor
dc.subjecthuman growth hormone
dc.subjectIGF1 protein, human
dc.subjectIGFBP3 protein, human
dc.subjectsomatomedin binding protein 3
dc.subjectsomatomedin C
dc.subjectadult
dc.subjectArticle
dc.subjectbiochemical analysis
dc.subjectcase report
dc.subjectclinical feature
dc.subjectdisease association
dc.subjectFanconi anemia
dc.subjectfemale
dc.subjectgenetic variation
dc.subjectheterozygote
dc.subjecthospital admission
dc.subjecthuman
dc.subjectLaron syndrome
dc.subjectmissense mutation
dc.subjectmolecular diagnosis
dc.subjectmolecular pathology
dc.subjectnext generation sequencing
dc.subjectphysical examination
dc.subjectprotein analysis
dc.subjectprotein blood level
dc.subjectprovocation test
dc.subjectshort stature
dc.subjectsignal transduction
dc.subjecttooth development
dc.subjectyoung adult
dc.subjectblood
dc.subjectbody height
dc.subjectcomplication
dc.subjectFanconi anemia
dc.subjectgenetics
dc.subjectLaron syndrome
dc.subjectmetabolism
dc.subjectMexico
dc.subjectpathology
dc.subjectBody Height
dc.subjectFanconi Anemia
dc.subjectFemale
dc.subjectHuman Growth Hormone
dc.subjectHumans
dc.subjectInsulin-Like Growth Factor Binding Protein 3
dc.subjectInsulin-Like Growth Factor I
dc.subjectLaron Syndrome
dc.subjectMexico
dc.subjectReceptors, Somatotropin
dc.subjectSignal Transduction
dc.subjectYoung Adult
dc.subject.classification7 INGENIERÍA Y TECNOLOGÍA
dc.titleFanconi Anemia and Laron Syndrome
dc.typeArtículo
dc.identifier.volume353
dc.identifier.issue5
dc.identifier.startpage425
dc.identifier.endpage432
refterms.dateFOA2018-10-18T20:12:56Z


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