Targeted gene(s)/phenotype under study:

NFIC, OMIM 600729


Transcription factors from the nuclear factor I (NFI) family have been shown to coordinate neural stem and progenitor cell differentiation within multiple regions of the embryonic nervous system, including the neocortex, hippocampus, spinal cord and cerebellum. This gene family consists of NFIA, NFIB, NFIX and NFIC. Knockout of mouse Nfi-a, b, x genes is responsible for similar phenotypes, suggestive of common target genes for these transcription factors. In human, NFIA-related disorder, NFIB-related disorder and NFIX-related disorder were described, and patients have a suggestive core phenotype, including intellectual disability and macrocephaly.

To date, the potential human phenotype associated with the last gene of this family, NFIC, is still unknown. However, microdeletions encompassing NFIC have been described, and interestingly, patients present intellectual disability and macrocephaly as well. To expand our cohort of patients, we are looking for patients with NFIC point variants, or small microdeletions encompassing NFIC.

Coordinating clinicians/researchers

Guillaume Jouret


National Center of Genetics (NCG)
Laboratoire national de santé (LNS)
Dudelange, Luxembourg   

Specific requirements beyond clinical data and genotype data sharing

  • Re-analysis of DNA samples: depending on the success of the collaboration
  • Resampling of patients: depending on the success of the collaboration
  • Linked to a translational/basic research project: depending on the success of the collaboration