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ZIC2 in Holoprosencephaly.

Kristen S Barratt1, Ruth M Arkell2

  • 1Early Mammalian Development Laboratory, John Curtin School of Medical Research, The Australian National University, Canberra, ACT, Australia.

Advances in Experimental Medicine and Biology
|February 15, 2018
PubMed
Summary

Mutations in the ZIC2 gene are common in Holoprosencephaly (HPE). ZIC2 variants cause diverse non-forebrain phenotypes, not typical HPE craniofacial features, affecting both classic and middle interhemispheric variant HPE.

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Area of Science:

  • Developmental Biology
  • Genetics
  • Neuroscience

Background:

  • Holoprosencephaly (HPE) is a severe congenital forebrain developmental defect.
  • The ZIC2 gene is frequently mutated in HPE cases.
  • HPE is traditionally associated with midline embryonic mispatterning and craniofacial abnormalities.

Purpose of the Study:

  • To define genotype-phenotype correlations in ZIC2-associated HPE.
  • To investigate the phenotypic spectrum and genetic heterogeneity of ZIC2 mutations in HPE.
  • To elucidate the cellular and molecular mechanisms underlying ZIC2's role in forebrain development.

Main Methods:

  • Analysis of genotype-phenotype correlations in HPE patients.
  • Characterization of ZIC2 allelic heterogeneity.
Keywords:
BMPDorsal-ventral patternHedgehogHoloprosencephalyNodalPrechordal plateSyntelencephalyTelencephalonWntZic2

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  • Utilizing a series of mouse mutants to study ZIC2 function.

    • Main Results:

    • ZIC2 mutations are associated with a range of non-forebrain phenotypes, distinct from typical HPE craniofacial features.
    • Pathogenic ZIC2 variants are linked to both classic HPE and middle interhemispheric variant (MIHV) HPE.
    • Defective ventral and dorsal forebrain patterning underlie ZIC2-associated HPE subtypes.

    Conclusions:

    • ZIC2 plays a critical role in both ventral and dorsal forebrain patterning.
    • ZIC2 mutations represent a significant genetic cause of HPE with a broader phenotypic spectrum than previously recognized.
    • Understanding ZIC2's molecular mechanisms is key to deciphering HPE pathogenesis.