Abstract

Background: Polydactyly is a hereditary condition in humans resulting from abnormalities in genes related to the development of autopods. This disorder can be inherited in an autosomal dominant or autosomal recessive pattern. GLI1 functions as a moderator in the hedgehog signaling pathway. Upon binding the hedgehog to its receptor, GLI proteins are activated, leading to the expression of genes responsible for bone patterning and establishment.
Methods and Result: Here, we describe the clinical and molecular findings of Pakistani origin family with postaxial polydactyly type B. Whole exome sequencing (WES) followed by Sanger sequencing identified a homozygous variant [c.1133C > T, p.(Ser378Leu)] residing in the zinc finger domain of the Glioma-Associated Oncogene Family Zinc Finger (GLI1).
Conclusion: This study will facilitate genetic counseling and proper diagnosis of families with related and same disorders in the Pakistani population.

Key words: Keywords: Polydactyly, GLI1, Zinc Finger Domain, Novel Variant, Phenotypic variability.