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Genetic causes of prenatal onset growth disorder

Grant number: 15/26980-7
Support type:Scholarships in Brazil - Doctorate
Effective date (Start): April 01, 2016
Effective date (End): June 30, 2019
Field of knowledge:Health Sciences - Medicine
Principal Investigator:Alexander Augusto de Lima Jorge
Grantee:Thais Kataoka Homma
Home Institution: Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brazil
Associated research grant:13/03236-5 - New approaches and methodologies in molecular-genetic studies of growth and pubertal development disorders, AP.TEM

Abstract

Children born small for gestational age (SGA) are a heterogeneous group with complex medical conditions. Many of these patients have short stature, characteristic typical facies, dysmorphic features, congenital malformations and / or psychomotor delay. The mechanism involved in this process often results from genetic alterations. However, the diagnosis of these patients is difficult. The availability and cost of genetic testing are still considerable obstacles. Another difficulty is the lack of professionals with expertise in clinical genetics. Recently, with the advent of new technologies in gene research and bioinformatics programs, this situation has been changed. The availability of sites with genetic-clinical information, such as Phenomizer and Possum, become useful tools to assist clinical diagnosis of these diseases. New sequencing technologies allow the evaluation of genes with greater speed and lower cost. The aim of this study is to perform a clinical and molecular genetic investigation of a group of patients born small for gestational age, analyzing the accuracy of a clinical trial protocol and programs used to identify genetic syndromes (Phenomizer and Possum) in identifying the etiological cause of children born SGA, developing strategies for the etiologic diagnosis of growth disorders of these children by combining clinical, laboratory, radiological and molecular genetic research. (AU)

Scientific publications (4)
(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)
HOMMA, THAIS KATAOKA; FREIRE, BRUNA LUCHEZE; HONJO KAWAHIRA, RACHEL SAYURI; DAUBER, ANDREW; DE ASSIS FUNARI, MARIANA FERREIRA; LERARIO, ANTONIO MARCONDES; NISHI, MIRIAN YUMIE; DE ALBUQUERQUE, EDOARDA VASCO; VASQUES, GABRIELA DE ANDRADE; COLLETT-SOLBERG, PAULO FERREZ; MIURA SUGAYAMA, SOFIA MIZUHO; BERTOLA, DEBORA ROMEO; KIM, CHONG AE; PRADO ARNHOLD, IVO JORGE; MALAQUIAS, ALEXSANDRA CHRISTIANNE; DE LIMA JORGE, ALEXANDER AUGUSTO. Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing. JOURNAL OF PEDIATRICS, v. 215, p. 192-198, DEC 2019. Web of Science Citations: 0.
FREIRE, BRUNA L.; HOMMA, THAIS K.; FUNARI, MARIANA F. A.; LERARIO, ANTONIO M.; VASQUES, GABRIELA A.; MALAQUIAS, ALEXSANDRA C.; ARNHOLD, IVO J. P.; JORGE, ALEXANDER A. L. Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, v. 104, n. 6, p. 2023-2030, JUN 2019. Web of Science Citations: 5.
FREIRE, BRUNA L.; HOMMA, THAIS K.; FUNARI, MARIANA F. A.; LERARIO, ANTONIO M.; LEAL, ALINE M.; VELLOSO, ELVIRA D. R. P.; MALAQUIAS, ALEXSANDRA C.; JORGE, ALEXANDER A. L. Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients. EUROPEAN JOURNAL OF MEDICAL GENETICS, v. 61, n. 3, p. 130-133, MAR 2018. Web of Science Citations: 9.
HOMMA, THAIS K.; KREPISCHI, ANA C. V.; FURUYA, TATIANE K.; HONJO, RACHEL S.; MALAQUIAS, ALEXSANDRA C.; BERTOLA, DEBORA R.; COSTA, SILVIA S.; CANTON, ANA P.; ROELA, ROSIMEIRE A.; FREIRE, BRUNA L.; KIM, CHONG A.; ROSENBERG, CARLA; JORGE, ALEXANDER A. L. Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause. Hormone Research in Paediatrics, v. 89, n. 1, p. 13-21, 2018. Web of Science Citations: 4.
Academic Publications
(References retrieved automatically from State of São Paulo Research Institutions)
HOMMA, Thais Kataoka. Genomic analysis techniques allow the establishment of etiological diagnosis in short stature children of unknown cause. 2019. Doctoral Thesis - Universidade de São Paulo (USP). Faculdade de Medicina São Paulo.

Please report errors in scientific publications list by writing to: cdi@fapesp.br.