Publications by authors named "Jerome Le Douce"
Synonymous single nucleotide variants (sSNVs) have been implicated in various genetic disorders through alterations of pre-mRNA splicing, mRNA structure and miRNA regulation. However, their impact on synonymous codon usage and protein translation remains to be elucidated in clinical context. Here, we explore the functional impact of sSNVs in the Sonic Hedgehog (SHH) gene, identified in patients affected by holoprosencephaly, a congenital brain defect resulting from incomplete forebrain cleavage.
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- * Traditional genetic testing has low success rates in diagnosing this condition, leading to numerous unsolved cases, prompting a study on the potential for multiple genetic mutations (oligogenic inheritance) contributing to the disorder.
- * The research analyzed 26 families with unresolved holoprosencephaly and identified significant genetic variants linked to critical pathways in brain development, indicating that oligogenic combinations are more common in these patients than in control groups, suggesting a new avenue for understanding the condition.