Gene/phenotype/disorder under study
PPP3R1 (*601302)
Abstract
Dear colleagues,
We have identified de novo heterozygous variants in the PPP3R1 gene in two children presenting with developmental delay, intellectual disability, hypotonia and additional neurological features such as movement disorder and epilepsy.
We are seeking to gather a series of children and adults carrying variants in PPP3R1 in order to assess their pathogenicity and describe a potential novel developmental disease associated with heterozygous variants in this gene.
This work is being conducted under the supervision of Dr. Cyril Mignot, Dr. Anna Gerasimenko and Dr. Lydie Burglen.
Kind regards
Theo Berger
Coordinating clinician
Cyril Mignot
Contact email: theo.berger@aphp.fr
Institution
APHP Sorbonne Université, Département de Génétique, Hôpital Armand Trousseau et Groupe Hospitalier de La Pitié Salpetrière, Paris, 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