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

Safdar Abbas; Farooq Ahmad; Misbah Kanwal; Annum Sultan; Gulab Said; Muhammad Umair

doi:10.24911/JBCGenetics/183-1672678766

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Original Article
Online Published: 26 Apr 2023

JBCGenetics. 2023; 6(2): 091-096

doi: 10.24911/JBCGenetics/183-1672678766

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

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

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.

Key words: HOXD13, Syndactyly, Missense mutation, Webbing.

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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. 2023; 6(2): 091-096. 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: November 14, 2024]. 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. 2023; 6(2): 091-096. 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. (2023), [cited November 14, 2024]; 6(2): 091-096. 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, 6 (2), 091-096. 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, 6 (2), 091-096. 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 6 (2023), 091-096. 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 6.2 (2023), 091-096. Print. 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, 6 (2), 091-096. doi:10.24911/JBCGenetics/183-1672678766

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