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.
International Medical Press is a global provider of independent medical education. Its mission is to provide healthcare professionals with high-quality, trusted medical information with the aim of helping optimize patient care.
No responsibility is assumed by International Medical Press for any injury and/or damage to persons or property through negligence or otherwise, or from any use or operation of any methods, products, instructions, or ideas contained in the material herein. Because of rapid advances in the medical sciences, International Medical Press recommends that independent verification of diagnoses and drug dosages should be made. The opinions expressed do not reflect those of International Medical Press or the sponsor. International Medical Press assumes no liability for any material contained herein.