Targeted syndrome/gene under study:
Gene: KIAA1109 – MIM 611565 ; Disorder: Alkuraya-Kucinskas syndrome – MIM 617822
Abstract
We have recently encountered an individual with bi-allelic variants in BLTP1 (also known as KIAA1109) , corresponding to a diagnosis of Alkuraya-Kucinskas syndrome. He presented with a particularly interesting brain MRI. We are looking for additional affected individuals, preferably individuals who have had brain imaging, in order to further delineate the phenotype of this syndrome.
Coordinating clinicians
Dr. Jessica Rosenblum – Jessica.Rosenblum@uza.be
Institution
Department of Medical Genetics, Antwerp University Hospital, Antwerp, Belgium
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