Genetic causes of prenatal onset growth disorder

• Grant number: 15/26980-7
• Support Opportunities: Scholarships in Brazil - Doctorate
• Start date: April 01, 2016
• End date: June 30, 2019
• Field of knowledge: Health Sciences - Medicine
• Principal Investigator: Alexander Augusto de Lima Jorge
• Grantee: Thais Kataoka Homma
• Host 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

(5)

(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 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.; et al. Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause. Hormone Research in Paediatrics, v. 89, n. 1, p. 13-21, 2018. (15/26980-7, 09/00898-1, 13/03236-5, 13/08028-1)

HOMMA, THAIS K.; FREIRE, BRUNA L.; HONJO, RACHEL; DAUBER, ANDREW; FUNARI, MARIANA F. A.; LERARIO, ANTONIO M.; ALBUQUERQUE, EDOARDA V. A.; VASQUES, GABRIELA A.; BERTOLA, DEBORA R.; KIM, CHONG A.; et al. Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature. Hormone Research in Paediatrics, v. 92, n. 2, p. 115-123, JAN 2020. (13/03236-5, 15/26980-7)

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; et al. Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing. JOURNAL OF PEDIATRICS, v. 215, p. 192-198, DEC 2019. (13/03236-5, 15/26980-7)

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. (13/02162-8, 15/26980-7, 13/03236-5)

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. (15/26980-7, 13/03236-5)

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 (FM/SBD) São Paulo.