JBCGenetics |

Original Article

Volume: 6 | Issue: 2 | Published: Apr 26, 2023 | Pages: 091 - 096 | DOI: 10.24911/JBCGenetics/183-1672678766

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

Article Info

Authors

Safdar Abbas

Department of Biological Sciences Dartmouth College Hanover NH USA

ORCID

Farooq Ahmad

Department of Biochemistry, Faculty of Allied Health Sciences and Technology, Women University Swabi, Main Campus Kotha, Topi Road Swabi, Khyber Pakhtunkhwa, Pakistan.

Misbah Kanwal

Department of Microbiology, Government College University Faisalabad

Annum Sultan

Department of Chemistry, Government Post Graduate College, Karak, Khyber Pakhtunkhwa, Pakistan

Gulab Said

Department of Chemistry, Faculty of Sciences, Women University Swabi, Main Campus Kotha, Topi Road Swabi, Khyber Pakhtunkhwa, Pakistan

Muhammad Umair

Department of Life Sciences, School of Science, University of Management and Technology (UMT), Lahore, Pakistan

Publication History

Received: February 18, 2023

Revised: March 30, 2023

Accepted: April 09, 2023

Published: April 26, 2023

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

Pubmed Style

Safdar Abbas, Farooq Ahmad, Misbah Kanwal, Annum Sultan, Gulab Said, Muhammad Umair. Novel Heterozygous Sequence Variant in the HOXD13 Gene Underlie Non-syndromic Syndactyly. JBC Genetics. 2023; 26 (April 2023): 091-096. doi:10.24911/JBCGenetics/183-1672678766

Web Style

Safdar Abbas, Farooq Ahmad, Misbah Kanwal, Annum Sultan, Gulab Said, Muhammad Umair. Novel Heterozygous Sequence Variant in the HOXD13 Gene Underlie Non-syndromic Syndactyly. https://www.jbcgenetics.com/articles/2089 [Access: April 27, 2025]. doi:10.24911/JBCGenetics/183-1672678766

AMA (American Medical Association) Style

Vancouver/ICMJE Style

Safdar Abbas, Farooq Ahmad, Misbah Kanwal, Annum Sultan, Gulab Said, Muhammad Umair. Novel Heterozygous Sequence Variant in the HOXD13 Gene Underlie Non-syndromic Syndactyly. JBC Genetics. (2023), [cited April 27, 2025]; 26 (April 2023): 091-096. doi:10.24911/JBCGenetics/183-1672678766

Harvard Style

Safdar Abbas, Farooq Ahmad, Misbah Kanwal, Annum Sultan, Gulab Said, Muhammad Umair (2023) Novel Heterozygous Sequence Variant in the HOXD13 Gene Underlie Non-syndromic Syndactyly. JBC Genetics, 26 (April 2023): 091-096. doi:10.24911/JBCGenetics/183-1672678766

Chicago Style

Safdar Abbas, Farooq Ahmad, Misbah Kanwal, Annum Sultan, Gulab Said, Muhammad Umair. "Novel Heterozygous Sequence Variant in the HOXD13 Gene Underlie Non-syndromic Syndactyly." 26 (2023), 091-096. doi:10.24911/JBCGenetics/183-1672678766

MLA (The Modern Language Association) Style

Safdar Abbas, Farooq Ahmad, Misbah Kanwal, Annum Sultan, Gulab Said, Muhammad Umair. "Novel Heterozygous Sequence Variant in the HOXD13 Gene Underlie Non-syndromic Syndactyly." 26.April 2023 (2023), 091-096. Print. doi:10.24911/JBCGenetics/183-1672678766

APA (American Psychological Association) Style

Safdar Abbas, Farooq Ahmad, Misbah Kanwal, Annum Sultan, Gulab Said, Muhammad Umair (2023) Novel Heterozygous Sequence Variant in the HOXD13 Gene Underlie Non-syndromic Syndactyly. , 26 (April 2023), 091-096. doi:10.24911/JBCGenetics/183-1672678766