Original Article
JBCGenetics. 2023; 6(1):

Novel Heterozygous Sequence Variant in the HOXD13 Gene Underlie Non-syndromic Syndactyly

Authors: Safdar Abbas, Farooq Ahmad, Misbah Kanwal, Annum Sultan, Gulab Said, Muhammad Umair.

View PDF HTML Fulltext DOI: 10.24911/JBCGenetics/183-1672678766

Abstract

Background: The term “Syndactyly” referred to an inherited deformity of the hand or foot marked by persistence of the webbing between adjacent digits that are more or less completely attached and mostly inherited in an autosomal dominant manner. Pathogenic variants in the HOXD13 (Homeobox D13) gene, located on chromosome 2q31.1, have been associated with syndactyly type 5, brachydactyly type D, E and synpolydactyly type 1 phenotypes. Objectives: A Pakistani inbreed was recruited from the remote area of the country was added in the study and aimed to clinically and genetically characterize the syndactyly as marked abnormal feature observed. Methodology: Whole exome sequencing coupled with Sanger sequencing was carried out to uncover the disease associated variant/s followed by 3D protein modeling to check variant related effect on protein level. Results: WES data analysis revealed a novel-HOXD13 gene missense variant (c.969G>T; p.Trp323Cys) that might explain the disease phenogenesis. 3D protein modeling of the normal and mutant protein predicated high level changes that might compromise the ultimate function of the protein. Conclusion: Our findings extend the mutation spectrum of HOXD13 gene and also provided additional evidence that HOXD13 play an important role in limbs development.

Keywords:   HOXD13, Syndactyly, Missense mutation, Webbing


© Copyright: Author(s)

Novel Heterozygous Sequence Variant in the HOXD13 Gene Underlie Non-syndromic Syndactyly


Authors
Safdar Abbas
Department of Biological Sciences Dartmouth College Hanover NH USA
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Farooq Ahmad
Department of Biochemistry, Faculty of Allied Health Sciences and Technology, Women University Swabi, Main Campus Kotha, Topi Road Swabi, Khyber Pakhtunkhwa, Pakistan.
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Misbah Kanwal
Department of Microbiology, Government College University Faisalabad
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Annum Sultan
Department of Chemistry, Government Post Graduate College, Karak, Khyber Pakhtunkhwa, Pakistan
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Gulab Said
Department of Chemistry, Faculty of Sciences, Women University Swabi, Main Campus Kotha, Topi Road Swabi, Khyber Pakhtunkhwa, Pakistan
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Muhammad Umair
Department of Life Sciences, School of Science, University of Management and Technology (UMT), Lahore, Pakistan
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Correspondence to:
. Department of Life Sciences, School of Science, University of Management and Technology (UMT), Lahore, Pakistan; khugoo4u@yahoo.com

Publication history
Received 02 Jan 2023
Revised 30 Mar 2023
Accepted 09 Apr 2023
Published online 26 Apr 2023

How to cite this article

Pubmed Style

Abbas S, Ahmad F, Kanwal M, Sultan A, Said G, Umair M. Novel Heterozygous Sequence Variant in the HOXD13 Gene Underlie Non-syndromic Syndactyly. JBCGenetics. Online First: 26 Apr, 2023. doi:10.24911/JBCGenetics/183-1672678766


Web Style

Abbas S, Ahmad F, Kanwal M, Sultan A, Said G, Umair M. Novel Heterozygous Sequence Variant in the HOXD13 Gene Underlie Non-syndromic Syndactyly. https://www.jbcgenetics.com//?mno=135954 [Access: June 06, 2023]. doi:10.24911/JBCGenetics/183-1672678766


AMA (American Medical Association) Style

Abbas S, Ahmad F, Kanwal M, Sultan A, Said G, Umair M. Novel Heterozygous Sequence Variant in the HOXD13 Gene Underlie Non-syndromic Syndactyly. JBCGenetics. Online First: 26 Apr, 2023. doi:10.24911/JBCGenetics/183-1672678766


Vancouver/ICMJE Style

Abbas S, Ahmad F, Kanwal M, Sultan A, Said G, Umair M. Novel Heterozygous Sequence Variant in the HOXD13 Gene Underlie Non-syndromic Syndactyly. JBCGenetics, [cited June 06, 2023]; Online First: 26 Apr, 2023. doi:10.24911/JBCGenetics/183-1672678766


Harvard Style

Abbas, S., Ahmad, . F., Kanwal, . M., Sultan, . A., Said, . G. & Umair, . M. (2023) Novel Heterozygous Sequence Variant in the HOXD13 Gene Underlie Non-syndromic Syndactyly. JBCGenetics, Online First: 26 Apr, 2023. doi:10.24911/JBCGenetics/183-1672678766


Turabian Style

Abbas, Safdar, Farooq Ahmad, Misbah Kanwal, Annum Sultan, Gulab Said, and Muhammad Umair. 2023. Novel Heterozygous Sequence Variant in the HOXD13 Gene Underlie Non-syndromic Syndactyly. Journal of Biochemical and Clinical Genetics, Online First: 26 Apr, 2023. doi:10.24911/JBCGenetics/183-1672678766


Chicago Style

Abbas, Safdar, Farooq Ahmad, Misbah Kanwal, Annum Sultan, Gulab Said, and Muhammad Umair. "Novel Heterozygous Sequence Variant in the HOXD13 Gene Underlie Non-syndromic Syndactyly." Journal of Biochemical and Clinical Genetics Online First: 26 Apr, 2023. doi:10.24911/JBCGenetics/183-1672678766


MLA (The Modern Language Association) Style

Abbas, Safdar, Farooq Ahmad, Misbah Kanwal, Annum Sultan, Gulab Said, and Muhammad Umair. "Novel Heterozygous Sequence Variant in the HOXD13 Gene Underlie Non-syndromic Syndactyly." Journal of Biochemical and Clinical Genetics Online First: 26 Apr, 2023. Web. 06 Jun 2023 doi:10.24911/JBCGenetics/183-1672678766


APA (American Psychological Association) Style

Abbas, S., Ahmad, . F., Kanwal, . M., Sultan, . A., Said, . G. & Umair, . M. (2023) Novel Heterozygous Sequence Variant in the HOXD13 Gene Underlie Non-syndromic Syndactyly. Journal of Biochemical and Clinical Genetics, Online First: 26 Apr, 2023. doi:10.24911/JBCGenetics/183-1672678766


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