Closed
Targeted gene under study
KIF4A (OMIM # 300521
Abstract
We have recently collected and described the comprehensive clinical evaluation of 11 patients with X-linked KIF4A variants. We expanded the phenotype from a neurodevelopmental disorder to a congenital anomaly phenotype presenting with brain and other organ anomalies. We would like to continue to further delineate the phenotypic and genetic spectrum of the disorder by collecting and comparing clinical and genetic data. We are interested in all prenatal and postnatal, severe to milder manifestations, in particular also the congenital anomaly spectrum.
Coordinating clinicians/researchers
Prof. Dr. Isabel Filges, MD – Isabel.Filges@usb.ch
Dr. Sabrina Stefanelli, MD – Sabrina.Stefanelli@usb.ch
Institution
Medical Genetics, University Hospital Basel
Specific requirements beyond clinical data and genotype data sharing:
- Re-analysis of DNA samples: No
- Resampling of patients: No
- Linked to a translational/basic research project: No