Targeted gene(s)/phenotype under study
Gene: SNX13
Abstract
We have identified two siblings with a homozygous truncating variant in SNX13, which is not yet known in human pathology. However, SNX13 is known to interact with SNX14, which is involved in a neurodevelopmental phenotype. Our patients have striking similarities with patients having SNX14 recessive variants with ataxia, cerebellar atrophy, intellectual disability, coarse facial features and hearing impairment. Functional studies are underway for the variant identified in our patient. We aim to find other families with SNX13 recessive variants to confirm the pathogenicity of the variant in our family and further delineate this genetic disease.
Coordinating clinicians/researchers
Dr Sandra Whalen
Contact: sandra.whalen@aphp.fr
Institution
Clinical Genetics Department
Armand Trousseau Hospital,
APHP, Paris
France
Specific requirements beyond clinical data and genotype data sharing
- Re-analysis of DNA samples : Skin biobsy if possible
- Resampling of patients : If necessary
- Linked to a translational/basic research project? No