FEZ Family Zinc Finger Protein 2

Alternative Names

  • FEZF2
  • Zinc Finger Protein 312
  • ZNF312
  • Forebrain Embryonic Zinc Finger-Like
  • FEZL
  • Too Few, Zebrafish, Homolog of
  • TOF
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OMIM Number

607414

Gene Map Locus
3p14.2

Description

The FEZF2 gene encodes the Fez Family Zinc Finger Protein 2.  While the exact function of the FEZF2 gene in humans is yet to be understood, ortholog studies in animals such as mice and zebrafish have helped elucidate its role.  Based on these ortholog studies, FEZF2 is believed to function as a transcriptional activator and repressor and to bind to metal ions and chromatin.  By carrying out its function, FEZF2 is speculated to be involved in several biological processes such as the regulation of neuron differentiation, cell proliferation, axon guidance and axonal fasciculation, dendrite development, cerebral cortex GABAergic interneuron migration, and forebrain anterior/posterior pattern specification.

Molecular Genetics

The FEZF2 gene is located on the short arm of chromosome 3 at position 3p14.2.  It spans a length of 4.6 kb of DNA and its coding sequence is spread across just five exons.  The protein encoded by FEZF2 has a molecular mass of 48.8 kDa and consists of 459 amino acids.  Alternative splicing gives rise to a transcript variant that encodes an additional isoform of the FEZF2 protein containing 304 amino acids.  The gene is found to be overexpressed in the hippocampus, amygdala and frontal cortex of the brain.

Epidemiology in the Arab World

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Other Reports

Saudi Arabia

Anazi et al. (2016) determined the efficiency of genomic tools as a diagnostic test by analyzing 337 Intellectual Disability (ID) patients.  The genomic approach was found to have a higher diagnostic yield than standard clinical evaluations (58% vs 16%).  Exome sequencing uncovered a homozygous c.708_719del (p.Arg237_Ala240del) mutation in the FEZF2 gene of a 5-year old Saudi girl and her 4-year old brother.  The patients belonged to a consanguineous family and both suffered from global developmental delays, brain atrophy, dystonic movements and urological abnormalities.  The girl also suffered from autistic behavior, microcephaly, suspected Dandy Walker malformation, spasticity, hypotonia and subtle dysmorphic features.  The identified variant was considered causal as it segregated fully with the phenotype and the role of FEZF2 in the development of the cortex and corticospinal tract had been previously shown in knockout mice studies.  

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