Targeted symptome under study:

Neural tube defects (NTDs)


Neural tube defects (NTDs) have a multifactorial etiology, arising from complex interactions of genetic and environmental factors. Planar polarity pathway (PCP) genes have a key role in convergent extension and apical constriction, crucial processes for proper NT closure. Germ-line variants in single or multiple PCP genes have been identified in association with human NTDs. However this approach may be missing other, non-germline anomalies: recent evidence has highlighted the role of somatic mutations of PCP genes in the development of NTDs.

The aim of this study is to identify possible somatic mutations, either in PCP or in other genes, or altered methylation patterns directly contributing to NTD phenotypes in a cohort of patients from Gaslini Children’s Hospital. 40 surgical tissues from patients with diverse types of NTD are available to date.

Whole Exome Sequencing (WES) with coverage of 700x on DNA from surgically removed lesions and methylation analyses are going to be performed.

The identification of somatic mutations will allow us to gain better insight on the pathophysiology of these complex disorders, probably ameliorating the clinical management of patients and their family.

For these reasons we are looking for more neurosurgical frozen tissue samples collected from affected NTD children or fetal frozen tissues coming from the spinal lesions

Coordinating clinicians

Valeria Capra –

Patrizia De Marco – patriziademarco

Ferruccio Romano –


Genomics and Clinical Genetics Unit, IRCCS G. Gaslini, Genoa, Italy

Medical Genetics, IRCCS G. Gaslini, Genoa, Italy

Specific requirements beyond clinical data and genotype data sharing:

1- Re-analysis of DNA samples: No

2- Resampling of patients: No

3- Linked to a translational/basic research project: Yes