ANA PINHEIRO MACHADO CANTON
Projetos de Pesquisa
Unidades Organizacionais
Instituto Central, Hospital das Clínicas, Faculdade de Medicina
LIM/42 - Laboratório de Hormônios e Genética Molecular, Hospital das Clínicas, Faculdade de Medicina
LIM/42 - Laboratório de Hormônios e Genética Molecular, Hospital das Clínicas, Faculdade de Medicina
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article 6 Citação(ões) na Scopus Mutations in insulin-like growth factor receptor 1 gene (IGF1R) resulting in intrauterine and postnatal growth retardation(2011) LEAL, Andrea de Castro; CANTON, Ana Pinheiro Machado; MONTENEGRO, Luciana Ribeiro; COUTINHO, Debora Cabral; ARNHOLD, Ivo Jorge Prado; JORGE, Alexander Augusto de LimaApproximately 10% of children born small-for-gestational age (SGA) do not show spontaneous growth catch-up. The causes of this deficit in prenatal growth and its maintenance after birth are not completely known, in most cases. Over the past eight years, several heterozygous inactivating mutations and deletions in IGF1R gene have been reported, indicating the role of defects in the IGFs/IGF1R axis as a cause of growth deficit. It has been hypothesized that at least 2.5% of children born SGA may have IGF1R gene defects. The clinical presentation of these patients is highly variable in the severity of growth retardation and hormonal parameters. In the most evident cases, patients have microcephaly, mild cognitive impairment and high levels of IGF-1, associated with short stature of prenatal onset. This review will describe the clinical, molecular and treatment of short stature with hrGH of children with mutations in the IGF1R gene. Arq Bras Endocrinol Metab. 2011;55(8):541-9conferenceObject Copy Number Variants in Patients with Congenital Hypopituitarism Associated with Complex Phenotypes(2015) CORREA, F.; FRANCA, M.; CANTON, A.; OTTO, A.; COSTALONGA, E.; BRITO, V; CARVALHO, L.; COSTA, S.; ARNHOLD, I; JORGE, A.; ROSENBERG, C.; MENDONCA, B.conferenceObject Pathogenic Copy Number Variants are Frequently Identified in Children with Short Stature of Unknown Etiology(2016) CANTON, Ana; HOMMA, Thais; FURUYA, Tatiane; ROELA, Rosimeire; ARNHOLD, Ivo; JORGE, AlexanderconferenceObject Genetic Evaluation of Syndromic Short Stature Children Born Small for Gestational Age(2018) HOMMA, T.; FREIRE, B.; HONJO, R.; DAUBER, A.; FUNARI, M.; LERARIO, A.; ARNHOLD, I.; CANTON, A.; SUGAYAMA, S.; BERTOLA, D.; KIM, C.; MALAQUIAS, A.; JORGE, A.conferenceObject Genetic Investigation of Children with Syndromic Prenatal Onset Short Stature(2018) HOMMA, Thais; FREIRE, Bruna; RONJO, Rachel; DAUBER, Andrew; FUNARI, Mariana; LERARIO, Antonio; ARNHOLD, Ivo; CANTON, Ana; SUGAYAMA, Sofia; BERTOLA, Debora; KIM, Chong; MALAQUIAS, Alexsandra; JORGE, AlexanderconferenceObject The Frequency of Pathogenic Copy Number Variants in Children with Short Stature of Unknown Etiology(2016) CANTON, A.; HOMMA, T.; FURUYA, T.; ROELA, R.; ARNHOLD, I; JORGE, A.- Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways(2014) CANTON, Ana P. M.; COSTA, Silvia S.; RODRIGUES, Tatiane C.; BERTOLA, Debora R.; MALAQUIAS, Alexsandra C.; CORREA, Fernanda A.; ARNHOLD, Ivo J. P.; ROSENBERG, Carla; JORGE, Alexander A. L.Background: The etiology of prenatal-onset short stature with postnatal persistence is heterogeneous. Submicroscopic chromosomal imbalances, known as copy number variants (CNVs), may play a role in growth disorders. Objective: To analyze the CNVs present in a group of patients born small for gestational age (SGA) without a known cause. Patients and methods: A total of 51 patients with prenatal and postnatal growth retardation associated with dysmorphic features and/or developmental delay, but without criteria for the diagnosis of known syndromes, were selected. Array-based comparative genomic hybridization was performed using DNA obtained from all patients. The pathogenicity of CNVs was assessed by considering the following criteria: inheritance; gene content; overlap with genomic coordinates for a known genomic imbalance syndrome; and overlap with CNVs previously identified in other patients with prenatal- onset short stature. Results: In 17 of the 51 patients, 18 CNVs were identified. None of these imbalances has been reported in healthy individuals. Nine CNVs, found in eight patients (16%), were categorized as pathogenic or probably pathogenic. Deletions found in three patients overlapped with known microdeletion syndromes (4q, 10q26, and 22q11.2). These imbalances are de novo, gene rich and affect several candidate genes or genomic regions that may be involved in the mechanisms of growth regulation. Conclusion: Pathogenic CNVs in the selected patients born SGA were common (at least 16%), showing that rare CNVs are probably among the genetic causes of short stature in SGA patients and revealing genomic regions possibly implicated in this condition.