Gene/phenotype/disorder under study
FEM1C
Abstract
My group identified the first human disorder linked to FEM1C dysfunction, caused by mutations such as Asp126His and Asp126Val. These variants likely impair FEM1C’s ability to recognize its substrates, leading to protein accumulation and neurodevelopmental symptoms.
Affected individuals show global developmental delay, absent speech, spasticity, limb ataxia, and sometimes tremor or nystagmus. All known cases are de novo, and the disorder is likely underdiagnosed.
My laboratory is actively seeking patients with FEM1C mutations whose variants can be studied as part of our ongoing research into the molecular mechanisms underlying FEM1C-related disease.
We strongly encourage clinicians as well as patients to contact us. Additional patient data are crucial for defining the full clinical spectrum, validating the pathogenicity of new variants, and identifying intervention targets.
Our website: https://pokrzywalab.com
Coordinating clinician
Wojciech Pokrzywa, PhD – wpokrzywa@iimcb.gov.pl
Institution
International Institute of Molecular and Cell Biology in Warsaw, Poland
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