Molecular analisys in pacients with overgrowth syndromes

• Grant number: 05/01880-8
• Support Opportunities: Regular Research Grants
• Start date: February 01, 2006
• End date: January 31, 2008
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Danilo Moretti-Ferreira
• Grantee: Danilo Moretti-Ferreira
• Host Institution: Instituto de Biociências (IBB). Universidade Estadual Paulista (UNESP). Campus de Botucatu. Botucatu , SP, Brazil

Abstract

Overgrowth syndromes is a group of disorders usually characterized by unusually large size at birth, excessive postnatal growth, and increased weight, increased length, and/or increased head circumference. In this study, SSCP will be used to search for microdeletions in the NSD1 gene in 20 patients who exhibited prenatal syndromic macrosomies such as Sotos Syndrome, Sotos-like Syndrome, Weaver Syndrome, Beck-with Wiedmann Syndrome, Bannayan-Zonana Syndrome, Simpson-Golabi-Behmel Syndrome, Elejalde Syndrome, Nevo Syndrome and Marshall-Smith Syndrome. In those not presenting microdeletions, the genes NSD1 and PTEN will be sequenced in order to determine the most frequent deletions, phenotype-genotype correlations and establish a molecular diagnosis for macrosomic syndromes. (AU)

Scientific publications

(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)

VIEIRA, GUSTAVO H.; COOK, MELISSA M.; FERREIRA DE LIMA, RENATA L.; FRIGERIO DOMINGUES, CARLOS E.; DE CARVALHO, DANIEL R.; DE PAIVA, ISAIAS SOARES; MORETTI-FERREIRA, DANILO; SRIVASTAVA, ANAND K.. Clinical and Molecular Heterogeneity in Brazilian Patients with Sotos Syndrome. MOLECULAR SYNDROMOLOGY, v. 6, n. 1, p. 32-38, 2015. (05/01880-8)