| Grant number: | 22/06089-2 |
| Support Opportunities: | Scholarships in Brazil - Doctorate |
| Start date: | October 01, 2022 |
| End date: | September 30, 2026 |
| Field of knowledge: | Biological Sciences - Genetics - Human and Medical Genetics |
| Principal Investigator: | Berenice Bilharinho de Mendonça |
| Grantee: | Barbara Leitao Braga |
| Host Institution: | Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brazil |
| Associated research grant: | 19/26780-9 - Molecular and epigenetic research on Differences in Sexual Development (DSD): impact of scientific diffusion on the relationship between science and society, AP.TEM |
Abstract Hypospadias is a congenital anomaly of the external genitalia, characterized by altered development of the urethra, foreskin and ventral surface of the penis. Genetic factors play an important role in the incidence of this defect in 46,XY individuals, both in isolated and in syndromic patients. Children born small for gestational age (SGA) have a high frequency of hypospadias of undetermined etiology, ranging from 15 to 30%. Among the variable signs in patients with Silver-Russell syndrome (SRS), genital atypia is present in about 40% of male patients with this syndrome. It is assumed that the presence of hypospadias is not directly associated with the known epigenetic changes of SRS or the known causes of SGA children, and may have an independent mechanism. Knowledge of the methylation patterns associated with specific disorders, as well as the establishment of pattern methylation-phenotype relationships may increase understanding of the causes and consequences of this disorder. The general objective of the present study is to compare the epigenetic profile of SGA patients with and without hypospadias through the assessment of global methylation of those patients who remain without a clinical diagnosis after being studied by large-scale parallel sequencing to exclude possible causative variants. The specific objective is to evaluate possible alterations in the global methylation pattern in patients without a molecular diagnosis to identify those that may be implicated in the etiology of hypospadias. | |
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