Targeted gene(s)/phenotype under study
XPO7 (OMIM # 606140 )
Abstract
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XPO7 encodes for exportin 7 or RAN-Binding Protein 16, a member of the importin-beta superfamily of nuclear transport receptors and implicated in the nuclear transport of proteins. Exportin 7 is highly expressed in brain but not yet reported in human pathology. We have collected 8 patients from different countries with (de novo) XPO7 variants and neurodevelopmental disorders. The phenotype is broad (developmental delay, intellectual disability, dysmorphic features, seizures, microcephaly) but patients share similarities and interestingly, four patients have the same missense variant.
We would like to constitute a cohort of patients with XPO7 variants in order to delineate the phenotype of this rare disease and are currently planning functional validation of pathogenicity of the variants.
Coordinating clinicians/researchers
Dr Lyse RUAUD
Contact: lyse.ruaud@aphp.fr
Institution
Clinical Genetics Department
Robert Debré University Hospital,
75019 Paris
France
Specific requirements beyond clinical data and genotype data sharing
- Re-analysis of DNA samples : Yes
- Resampling of patients : Ye
- Linked to a translational/basic research project: Yes