Targeted gene under study:
Verheij syndrome (PUF60)
Abstract
Apart from a few fetal case reports of Verheij syndrome (PUF60), the antenatal phenotype is very little described in the literature. In the continuity of Perrine’s work on this gene, we would like to collect fetal data in order to clarify the prenatal phenotypic description of this syndrome. We are interested in fetuses carrying pathogenic or probably pathogenic variants in PUF60 with autopsy if possible and detailed antenatal data
Coordinating clinicians
Cindy Colson – Cindy.colson@chu-lille.fr
Perrine Brunelle – Perrine.brunelle@chu-lille.fr
Institution
Centre Hospitalier Universitaire de Lille, Lille, France
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: No