Targeted gene under study:
DYNC1H1–related disorders including but not limited to Charcot-Marie-Tooth Type 2O, SMALED, brain malformations, epilepsy (OMIM *600112, #614228/614563/158600; ORPHA: 284232/363447/178469/209341/101685)
Abstract
Monoallelic variants in DYNC1H1 are linked to a clinical and molecular spectrum including both neuromuscular disorders (NMD) and/or neurodevelopmental disorders (NDD) with muscular hypotonia, neurodevelopmental delay, axonal neuropathy, and variable brain malformation. We have previously described its clinical spectrum (Möller et al., 2024, GeneReviews; Becker et al., 2020, J Hum Genet). Recently we have reported an expanding spectrum with dysautonomia, immunodeficiency, and neurodegenerative disease progression exacerbated by viral infections (Möller et al., 2024, Brain). Here, we study the genotype-phenotype correlation of DYNC1H1-related disorders.
Coordinating team
Priv.-Doz. Dr. med. 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