A biallelic variant in IQCE predisposed to cause non-syndromic post-axial polydactyly type A
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,...
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| Format: | Article |
| Language: | English |
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Discover STM Publishing Ltd
2023-02-01
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| Series: | Journal of Biochemical and Clinical Genetics |
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| Online Access: | https://www.jbcgenetics.com/?mno=138774 |
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| author | Muhammad Bilal Muhammad Raheel Gul Hassan Shah Zeb Arif Mahmood Zamrud Zehri Hafiza Yasmin Manzoor Muhammad Umair |
| author_facet | Muhammad Bilal Muhammad Raheel Gul Hassan Shah Zeb Arif Mahmood Zamrud Zehri Hafiza Yasmin Manzoor Muhammad Umair |
| author_sort | Muhammad Bilal |
| collection | DOAJ |
| description | 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. [JBCGenetics 2023; 6(1.000): 29-35] |
| format | Article |
| id | doaj-art-da295602d659419b8349b36ffd752bf8 |
| institution | DOAJ |
| issn | 1658-807X 1658-8088 |
| language | English |
| publishDate | 2023-02-01 |
| publisher | Discover STM Publishing Ltd |
| record_format | Article |
| series | Journal of Biochemical and Clinical Genetics |
| spelling | doaj-art-da295602d659419b8349b36ffd752bf82025-08-20T02:48:39ZengDiscover STM Publishing LtdJournal of Biochemical and Clinical Genetics1658-807X1658-80882023-02-0161293510.24911/JBCGenetics/183-1673499250138774A biallelic variant in IQCE predisposed to cause non-syndromic post-axial polydactyly type AMuhammad Bilal0Muhammad Raheel1Gul Hassan2Shah Zeb3Arif Mahmood4Zamrud Zehri5Hafiza Yasmin Manzoor6Muhammad Umair7Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan Department of Microbiology, Shah Abdul Latif University, Khairpur, Pakistan Department of Biochemistry, Shah Abdul Latif University, Khairpur, Pakistan 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 6Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, China Shaheed Nawab Ghous Bakhsh Raisani Memorial Hospital, Mastung, Balochistan, Pakistan Department of Laboratory, Carle Foundation Hospital, 611 W Park St, Urbana, IL 61801, USA Department of Life Sciences, School of Science, University of Management and Technology (UMT), Lahore, Pakistan.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. [JBCGenetics 2023; 6(1.000): 29-35]https://www.jbcgenetics.com/?mno=138774papaiqcereported variantpakistani population3d modelingwes |
| spellingShingle | Muhammad Bilal Muhammad Raheel Gul Hassan Shah Zeb Arif Mahmood Zamrud Zehri Hafiza Yasmin Manzoor Muhammad Umair A biallelic variant in IQCE predisposed to cause non-syndromic post-axial polydactyly type A Journal of Biochemical and Clinical Genetics papa iqce reported variant pakistani population 3d modeling wes |
| title | A biallelic variant in IQCE predisposed to cause non-syndromic post-axial polydactyly type A |
| title_full | A biallelic variant in IQCE predisposed to cause non-syndromic post-axial polydactyly type A |
| title_fullStr | A biallelic variant in IQCE predisposed to cause non-syndromic post-axial polydactyly type A |
| title_full_unstemmed | A biallelic variant in IQCE predisposed to cause non-syndromic post-axial polydactyly type A |
| title_short | A biallelic variant in IQCE predisposed to cause non-syndromic post-axial polydactyly type A |
| title_sort | biallelic variant in iqce predisposed to cause non syndromic post axial polydactyly type a |
| topic | papa iqce reported variant pakistani population 3d modeling wes |
| url | https://www.jbcgenetics.com/?mno=138774 |
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