Targeted gene under study:
SEMA6D (OMIM *609295)
Abstract
We aim at deciphering the clinical and molecular spectrum of the SEMA6D associated neurodevelopmental disorder (NDD). We already gathered a small group of patients with syndromic NDD harbouring de novo heterozygous variants in SEMA6D genes. Similar to what was observed in the previously described SEMA6B associated NDD (Cordovado et al. 2022), these variants are mainly truncating variants arising in the last exon of SEMA6D and probably escaping Nonsense Mediated Decay. In vivo functional studies have been initiated in chicken embryos by our research collaborators from the University of Zurich. The aim of the study is to collect clinical data on additional patients with SEMA6D variants in order to establish genotype/phenotype correlations. Please contact us if you have any patients (postnatal and/or prenatal) with heterozygous SEMA6D variants presenting with NDD.
Coordinating team
Dr. Yvan Herenger – yvan.herenger@luks.ch
Marie-Laure Vuillaume Winter – m.winter@chu-tours.fr
Institutions
Center for rare developmental disorders, Luzerner Kantonsspital, Luzern, Switzerland
Genetics department, Tours Hospital, tours, 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: Yes