Original Article
Published: Dec 07, 2025 | DOI: 10.24911/JBCGenetics.11-2336
Novel Variant in CBP domain of GLI3 underlying Postaxial Polydactyly
Authors:
Aneela Hazoor
, Bibi Ayesha Zehri
, Nadeem Hameed
, Muhammad Sharif Hasni
, Mehraj Gul
Article Info
Authors
Aneela Hazoor
Institute of Biochemistry, University of Balochistan, Pakistan
Bibi Ayesha Zehri
Makran Medical College, Turbat, Kech, Balochistan, Pakistan
Nadeem Hameed
Shaheed Nawab Ghous Bakhsh Raisani Memorial Hospital Mastung, Balochistan, Pakistan
Muhammad Sharif Hasni
Institute of Biochemistry, University of Balochistan, Pakistan
Publication History
Received: August 15, 2025
Accepted: October 14, 2025
Published: December 07, 2025
Abstract
Background: 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.
Methods and results: 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)].
Conclusion: 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.
Keywords: GLI3, Missense mutation, Polydactyly, Whole exome sequencing
Pubmed Style
Aneela Hazoor, Bibi Ayesha Zehri, Nadeem Hameed, Muhammad Sharif Hasni, Mehraj Gul. Novel Variant in CBP domain of GLI3 underlying Postaxial Polydactyly. JBC Genetics. 2025; 07 (December 2025): -. doi:10.24911/JBCGenetics.11-2336
Web Style
Aneela Hazoor, Bibi Ayesha Zehri, Nadeem Hameed, Muhammad Sharif Hasni, Mehraj Gul. Novel Variant in CBP domain of GLI3 underlying Postaxial Polydactyly. https://jbcgenetics.com/articles/2336 [Access: December 11, 2025]. doi:10.24911/JBCGenetics.11-2336
AMA (American Medical Association) Style
Aneela Hazoor, Bibi Ayesha Zehri, Nadeem Hameed, Muhammad Sharif Hasni, Mehraj Gul. Novel Variant in CBP domain of GLI3 underlying Postaxial Polydactyly. JBC Genetics. 2025; 07 (December 2025): -. doi:10.24911/JBCGenetics.11-2336
Vancouver/ICMJE Style
Aneela Hazoor, Bibi Ayesha Zehri, Nadeem Hameed, Muhammad Sharif Hasni, Mehraj Gul. Novel Variant in CBP domain of GLI3 underlying Postaxial Polydactyly. JBC Genetics. (2025), [cited December 11, 2025]; 07 (December 2025): -. doi:10.24911/JBCGenetics.11-2336
Harvard Style
Aneela Hazoor, Bibi Ayesha Zehri, Nadeem Hameed, Muhammad Sharif Hasni, Mehraj Gul (2025) Novel Variant in CBP domain of GLI3 underlying Postaxial Polydactyly. JBC Genetics, 07 (December 2025): -. doi:10.24911/JBCGenetics.11-2336
Chicago Style
Aneela Hazoor, Bibi Ayesha Zehri, Nadeem Hameed, Muhammad Sharif Hasni, Mehraj Gul. "Novel Variant in CBP domain of GLI3 underlying Postaxial Polydactyly." 07 (2025), -. doi:10.24911/JBCGenetics.11-2336
MLA (The Modern Language Association) Style
Aneela Hazoor, Bibi Ayesha Zehri, Nadeem Hameed, Muhammad Sharif Hasni, Mehraj Gul. "Novel Variant in CBP domain of GLI3 underlying Postaxial Polydactyly." 07.December 2025 (2025), -. Print. doi:10.24911/JBCGenetics.11-2336
APA (American Psychological Association) Style
Aneela Hazoor, Bibi Ayesha Zehri, Nadeem Hameed, Muhammad Sharif Hasni, Mehraj Gul (2025) Novel Variant in CBP domain of GLI3 underlying Postaxial Polydactyly. , 07 (December 2025), -. doi:10.24911/JBCGenetics.11-2336