Targeted syndrome under study:
KIF21A
Abstract
Bi-allelic variants in the KIF21A gene have been reported in fetal akinesia with multiple arthrogryposis. These cases are rare and have predominantly been described in fetal or postnatal contexts with unfavorable outcomes.
We aim to better characterize the phenotype associated with bi-allelic loss-of-function KIF21A alterations (truncating and missense variants), both in prenatal and postnatal contexts.
If you have patients with relevant phenotypes, please do not hesitate to contact
Coordinating clinician
DR COLSON Cindy – cindy.colson@chu-lille.fr
Institution
CHU Lille, 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