Original Article
Volume: 6 | Issue: 1 | Published: Mar 19, 2023 | Pages: 29 - 35 | DOI: 10.24911/JBCGenetics/183-1673499250
A biallelic variant in IQCE predisposed to cause non-syndromic post-axial polydactyly type A
Authors: Muhammad Bilal , Muhammad Raheel , Gul Hassan , Shah Zeb , Arif Mahmood , Zamrud Zehri , Hafiza Yasmin Manzoor , Muhammad Umair
Article Info
Authors
Muhammad Bilal
Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan
Muhammad Raheel
Department of Microbiology, Shah Abdul Latif University, Khairpur, Pakistan
Gul Hassan
Department of Biochemistry, Shah Abdul Latif University, Khairpur, Pakistan
Shah Zeb
Institute for Advanced Study, Shenzhen University, Shenzhen, People's Republic of China,College of Physics and Optoelectronics Engineering, Shenzhen University, Shenzhen, People's Republic of China
Arif Mahmood
6Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, China
Zamrud Zehri
Shaheed Nawab Ghous Bakhsh Raisani Memorial Hospital, Mastung, Balochistan, Pakistan
Hafiza Yasmin Manzoor
Department of Laboratory, Carle Foundation Hospital, 611 W Park St, Urbana, IL 61801, USA
Muhammad Umair
Department of Life Sciences, School of Science, University of Management and Technology (UMT), Lahore, Pakistan.
Publication History
Received: February 05, 2023
Revised: February 16, 2023
Accepted: March 01, 2023
Published: March 19, 2023
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.
Keywords: PAPA, IQCE, reported variant, Pakistani population, 3D modeling, WES
