E-ISSN 1658-8088 | ISSN 1658-807X
 

Original Article 


A biallelic variant in IQCE predisposed to cause non-syndromic post-axial polydactyly type A

Muhammad Bilal, Muhammad Raheel, Gul Hassan, Shah Zeb, Arif Mahmood, Zamrud Zehri, Hafiza Yasmin Manzoor, Muhammad Umair.

Abstract
Background: Polydactyly or hexadactyly is a familiar limb defect that either occurs as an isolated entity (non-syndromic) or is associated with severe (syndromic) morphological phenotypes. Generally, it appears due to a defect in the anteroposterior patterning during limb development.
Methods: Here, we present a proband having non-syndromic post-axial polydactyly (PAP) evaluated using whole exome sequencing followed by Sanger sequencing. Furthermore, 3D protein modeling was executed for the normal and mutated IQ domain-containing protein E (IQCE) gene.
Results: WES analysis revealed an already reported bi-allelic variant (c.395-1 G>A) in the IQCE gene, previously associated with PAP 7. Furthermore, 3D modeling revealed significant fluctuations in the IQCE protein secondary structure, thus affecting downstream signaling.
Conclusion: The work presented validated the significant role of the IQCE gene in the development and patterning of human limbs.

Key words: PAPA, IQCE, reported variant, Pakistani population, 3D modeling, WES.


 
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How to Cite this Article
Pubmed Style

Bilal M, Raheel M, Hassan G, Zeb S, Mahmood A, Zehri Z, Manzoor HY, Umair M. A biallelic variant in IQCE predisposed to cause non-syndromic post-axial polydactyly type A. JBCGenetics. 2023; 6(1): 29-35. doi:10.24911/JBCGenetics/183-1673499250


Web Style

Bilal M, Raheel M, Hassan G, Zeb S, Mahmood A, Zehri Z, Manzoor HY, Umair M. A biallelic variant in IQCE predisposed to cause non-syndromic post-axial polydactyly type A. https://www.jbcgenetics.com/?mno=138774 [Access: December 05, 2023]. doi:10.24911/JBCGenetics/183-1673499250


AMA (American Medical Association) Style

Bilal M, Raheel M, Hassan G, Zeb S, Mahmood A, Zehri Z, Manzoor HY, Umair M. A biallelic variant in IQCE predisposed to cause non-syndromic post-axial polydactyly type A. JBCGenetics. 2023; 6(1): 29-35. doi:10.24911/JBCGenetics/183-1673499250



Vancouver/ICMJE Style

Bilal M, Raheel M, Hassan G, Zeb S, Mahmood A, Zehri Z, Manzoor HY, Umair M. A biallelic variant in IQCE predisposed to cause non-syndromic post-axial polydactyly type A. JBCGenetics. (2023), [cited December 05, 2023]; 6(1): 29-35. doi:10.24911/JBCGenetics/183-1673499250



Harvard Style

Bilal, M., Raheel, . M., Hassan, . G., Zeb, . S., Mahmood, . A., Zehri, . Z., Manzoor, . H. Y. & Umair, . M. (2023) A biallelic variant in IQCE predisposed to cause non-syndromic post-axial polydactyly type A. JBCGenetics, 6 (1), 29-35. doi:10.24911/JBCGenetics/183-1673499250



Turabian Style

Bilal, Muhammad, Muhammad Raheel, Gul Hassan, Shah Zeb, Arif Mahmood, Zamrud Zehri, Hafiza Yasmin Manzoor, and Muhammad Umair. 2023. A biallelic variant in IQCE predisposed to cause non-syndromic post-axial polydactyly type A. Journal of Biochemical and Clinical Genetics, 6 (1), 29-35. doi:10.24911/JBCGenetics/183-1673499250



Chicago Style

Bilal, Muhammad, Muhammad Raheel, Gul Hassan, Shah Zeb, Arif Mahmood, Zamrud Zehri, Hafiza Yasmin Manzoor, and Muhammad Umair. "A biallelic variant in IQCE predisposed to cause non-syndromic post-axial polydactyly type A." Journal of Biochemical and Clinical Genetics 6 (2023), 29-35. doi:10.24911/JBCGenetics/183-1673499250



MLA (The Modern Language Association) Style

Bilal, Muhammad, Muhammad Raheel, Gul Hassan, Shah Zeb, Arif Mahmood, Zamrud Zehri, Hafiza Yasmin Manzoor, and Muhammad Umair. "A biallelic variant in IQCE predisposed to cause non-syndromic post-axial polydactyly type A." Journal of Biochemical and Clinical Genetics 6.1 (2023), 29-35. Print. doi:10.24911/JBCGenetics/183-1673499250



APA (American Psychological Association) Style

Bilal, M., Raheel, . M., Hassan, . G., Zeb, . S., Mahmood, . A., Zehri, . Z., Manzoor, . H. Y. & Umair, . M. (2023) A biallelic variant in IQCE predisposed to cause non-syndromic post-axial polydactyly type A. Journal of Biochemical and Clinical Genetics, 6 (1), 29-35. doi:10.24911/JBCGenetics/183-1673499250





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