Gene/phenotype/disorder under study
SP9 #621003 / Neurodevelopmental disorders
Abstract
We have recently identified de novo heterozygous missense and truncating variants in the SP9 gene, associated with a neurodevelopmental disorder exhibiting a broad clinical spectrum. This ranges from early-onset developmental and epileptic encephalopathy to autism spectrum disorder, intellectual disability, and schizophrenia-related disorders.
We are launching a collaboration to broaden the clinical spectrum associated with heterozygous variants and SV/CNV involving SP9, and to collect detailed clinical and biological data in order to refine our understanding of the natural history of this condition.
If you have identified individuals with heterozygous variants or SV/CNV of SP9, we would be very interested in collaborating.
Thank you in advance for your participation.
Coordinating clinician
Pr COLIN Estelle – es.colin@chu-angers.fr ; jeanpaul.moussa@chu-angers.fr
Institution
Hôpital universitaire d’Angers, 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