Novel Variant in CBP domain of GLI3 underlying Postaxial Polydactyly

<p><strong>Background: </strong>Polydactyly is common congenital limb anomaly characterized by having extra fingers or toes and can be either syndromic or non-syndromic. GLI3 plays an important role in limb development via the Sonic Hedgehog signaling system. <br /><strong>Methods and Results:</strong> In this study, we examined a Pakistan family with postaxial polydactyly in an autosomal dominant manner. Clinical assessment confirmed non-syndromic presentation without further systemic abnormalities. Whole exome sequencing and Sanger validation identified a novel heterozygous missense variant in GLI3 (Glioma-associated oncogene homolog 3) [NM_000168.6: c.3199C>T; p. (Pro1067Ser)].<br /><strong>Conclusion:</strong> This novel variant expands the GLI3 mutation spectrum and highlights the importance of comprehensive genetic screening for accurate diagnosis and counselling of families with isolated polydactyly.</p>