Targeted gene under study:
LIFR (OMIM * 151443, # 601559; ORPHA: 3206 )
IL6ST (OMIM * 600694, # 619751; ORPHA: 397709)
Abstract
Biallelic and monoallelic variants in the IL-6 signal transduction genes, LIFR and IL6ST, are associated with Stüve-Wiedemann syndrome which is characterized by neurodevelopmental disorders, skeletal dysplasia, dysautonomia, and immunodeficiency. Its monoallelic forms show an attenuated phenotype with either IL6ST-related hyper IgE syndrome or LIFR-related neurodevelopmental disorders with urinary malformations. Here, we study the genotype-phenotype correlation of both biallelic and monoallelic variants in LIFR and IL6ST.
Coordinating clinicians
Hormos Dafsari – hormos.dafsari@uk-koeln.de
Institution
Department of Pediatrics, University Hospital Cologne, Cologne, Germany
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: Yes