Targeted syndrom under study
Purine rich element binding protein A (Pura) encoded by the PURA gene is an important transcriptional regulator which binds DNA and RNA and plays a crucial role in neuronal development and differentiation. Haploinsufficiency of this gene has been reported to cause a severe neurodevelopmental syndrome with a wide range of symptoms including neurodevelopmental delay, intellectual disability, profound hypotonia, feeding difficulties, abnormal breathing pattern and seizures. In the literature, only one large duplication involving this gene has been described (Rosenfeld et al. 2011). In France, we have collected four 5q31 duplications involving PURA occurring mainly de novo and identified in patients with a neurodevelopmental disorder. The aim of the study is to collect clinical data on additional patients with a 5q31 microduplication involving PURA and to better describe the clinical features associated with this duplication. Moreover, if possible, we plan to measure PURA expression levels in patient’s lymphocytes in order to assess if this duplication could lead to PURA dosage variation.
Marie-Laure Vuillaume Winter – firstname.lastname@example.org
Genetics department, Tours Hospital, Tours, France
Specific requirements beyond clinical data and genotype data sharing:
- Re-analysis of DNA samples: No
- Resampling of patients: Yes
- Linked to a translational/basic research project: Yes