Ricerc@Sapienza

Corpus Callosum (CC) anomalies are midline congenital abnormalities, presenting as isolated malformations or associated with intra and extra-cranial findings, significantly affecting prognosis. Genetic causes or environmental factors can disrupt proper CC development during embryonic development.
Recognized genetic causes include chromosomal abnormalities, genomic rearrangements and single nucleotide/small indels mutations. However, in many cases molecular bases of CC abnormalities cannot be identified, given the different developmental processes and pathways that may be dysregulated.
Many different genes and transmission patterns have been described in non isolated forms , whereas the genetics of isolated forms remain poorly understood.
Prenatally detected CC anomalies often result in voluntary interruption of pregnancy, but data about postnatal outcome are insufficient.
Standard and molecular karyotype (arrayCGH or SNParray) should always be performed, followed by NGS (Next Generation Sequencing) approaches, as exome sequencing.
According to the results of a retrospective analysis of a cohort of 104 fetuses performed by our group in the last few years, the application of exome sequencing together with an accurate clinical and instrumental characterization is essential to reach a definitive diagnosis.
The aim of this project is the recruitment of additional cases affected by CC anomalies, expanding the pre-existing cohort, starting from prenatal period and plannig a follow-up in the postnatal period, performing in all cases exome sequencing. This approach could permit to better characterize the molecular bases of isolated and non-isolated forms of CC anomalies, improving genetic counseling and disclosing novel genotype-phenotype correlations both in prenatal and postnatal period.
This project can have impact on diagnosis and clinical management of CC anomalies, and in elucidating the molecular bases of these conditions.