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Original Article
Online Published: 31 Dec 2024
 


A variant in the Zinc Finger Domain of GLI1 underlies Post Axial Polydactyly Type B

Zaheer Ahmed, Syed Nasir Abbas Shah, Rimsha Zaid, Abdul Jabbar, Adeel Shahid, Nizam Uddin Baloch, Muhammad Jawad Khan, Muhammad Umair.


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.


 
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How to Cite this Article
Pubmed Style

Ahmed Z, Shah SNA, Zaid R, Jabbar A, Shahid A, Baloch NU, Khan MJ, Umair M. A variant in the Zinc Finger Domain of GLI1 underlies Post Axial Polydactyly Type B. JBCGenetics. Online First: 31 Dec, 2024. doi:10.24911/JBCGenetics.183-1731492813

Web Style

Ahmed Z, Shah SNA, Zaid R, Jabbar A, Shahid A, Baloch NU, Khan MJ, Umair M. A variant in the Zinc Finger Domain of GLI1 underlies Post Axial Polydactyly Type B. https://www.jbcgenetics.com/?mno=228500 [Access: January 01, 2025]. doi:10.24911/JBCGenetics.183-1731492813

AMA (American Medical Association) Style

Ahmed Z, Shah SNA, Zaid R, Jabbar A, Shahid A, Baloch NU, Khan MJ, Umair M. A variant in the Zinc Finger Domain of GLI1 underlies Post Axial Polydactyly Type B. JBCGenetics. Online First: 31 Dec, 2024. doi:10.24911/JBCGenetics.183-1731492813


Vancouver/ICMJE Style

Ahmed Z, Shah SNA, Zaid R, Jabbar A, Shahid A, Baloch NU, Khan MJ, Umair M. A variant in the Zinc Finger Domain of GLI1 underlies Post Axial Polydactyly Type B. JBCGenetics, [cited January 01, 2025]; Online First: 31 Dec, 2024. doi:10.24911/JBCGenetics.183-1731492813


Harvard Style

Ahmed, Z., Shah, . S. N. A., Zaid, . R., Jabbar, . A., Shahid, . A., Baloch, . N. U., Khan, . M. J. & Umair, . M. (2024) A variant in the Zinc Finger Domain of GLI1 underlies Post Axial Polydactyly Type B. JBCGenetics, Online First: 31 Dec, 2024. doi:10.24911/JBCGenetics.183-1731492813


Turabian Style

Ahmed, Zaheer, Syed Nasir Abbas Shah, Rimsha Zaid, Abdul Jabbar, Adeel Shahid, Nizam Uddin Baloch, Muhammad Jawad Khan, and Muhammad Umair. 2024. A variant in the Zinc Finger Domain of GLI1 underlies Post Axial Polydactyly Type B. Journal of Biochemical and Clinical Genetics, Online First: 31 Dec, 2024. doi:10.24911/JBCGenetics.183-1731492813


Chicago Style

Ahmed, Zaheer, Syed Nasir Abbas Shah, Rimsha Zaid, Abdul Jabbar, Adeel Shahid, Nizam Uddin Baloch, Muhammad Jawad Khan, and Muhammad Umair. "A variant in the Zinc Finger Domain of GLI1 underlies Post Axial Polydactyly Type B." Journal of Biochemical and Clinical Genetics Online First: 31 Dec, 2024. doi:10.24911/JBCGenetics.183-1731492813


MLA (The Modern Language Association) Style

Ahmed, Zaheer, Syed Nasir Abbas Shah, Rimsha Zaid, Abdul Jabbar, Adeel Shahid, Nizam Uddin Baloch, Muhammad Jawad Khan, and Muhammad Umair. "A variant in the Zinc Finger Domain of GLI1 underlies Post Axial Polydactyly Type B." Journal of Biochemical and Clinical Genetics Online First: 31 Dec, 2024. Web. 01 Jan 2025 doi:10.24911/JBCGenetics.183-1731492813


APA (American Psychological Association) Style

Ahmed, Z., Shah, . S. N. A., Zaid, . R., Jabbar, . A., Shahid, . A., Baloch, . N. U., Khan, . M. J. & Umair, . M. (2024) A variant in the Zinc Finger Domain of GLI1 underlies Post Axial Polydactyly Type B. Journal of Biochemical and Clinical Genetics, Online First: 31 Dec, 2024. doi:10.24911/JBCGenetics.183-1731492813




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