Synonymous single nucleotide variants in holoprosencephaly patients


  • Eight synonymous single nucleotide variants (sSNVs) in the Sonic Hedgehog (SHH) gene were identified in patients with holoprosencephaly.

Why this matters

  • sSNVs have been previously linked with genetic disorders and are known to participate in the pathogenesis of these disorders by altering pre-mRNA splicing, mRNA structure and miRNA regulation.

  • SHH has a pivotal role in brain development, thus the alterations identified in this study are of great interest and warrant further investigation in regard to their role in the pathology of holoprosencephaly.