Targeted gene under study:
LMNB1 (OMIM * 150340, # 619179; ORPHA: 2514)
LMNB2 (OMIM * 150341, # 619180; ORPHA: 2514)
Abstract
Monoallelic and biallelic variants in the nuclear B-type lamin genes, LMNB1 and LMNB2, are associated with neurodevelopmental disorders, microcephaly, leukodystrophy, progressive myoclonic epilepsy, and lipodystrophy. Additional features may include short stature, spasticity, feeding difficulties, and nonspecific dysmorphic facial features. Brain imaging in some patients shows a simplified gyral pattern or dysgenesis of the corpus callosum, suggesting abnormal neuronal migration. Here, we study the genotype-phenotype correlation of both LMNB1- and LMNB2-related neurodevelopmental disorders.
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