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Recent Advances in Syndactyly: Basis, Current Status and Future Perspectives

A comprehensive summary of recent knowledge in syndactyly (SD) is important for understanding the genetic etiology of SD and disease management. Thus, this review article provides background information on SD, as well as insights into phenotypic and genetic heterogeneity, newly identified gene mutat...

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Autores principales: Zaib, Tahir, Rashid, Hibba, Khan, Hanif, Zhou, Xiaoling, Sun, Pingnan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9141913/
https://www.ncbi.nlm.nih.gov/pubmed/35627156
http://dx.doi.org/10.3390/genes13050771
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author Zaib, Tahir
Rashid, Hibba
Khan, Hanif
Zhou, Xiaoling
Sun, Pingnan
author_facet Zaib, Tahir
Rashid, Hibba
Khan, Hanif
Zhou, Xiaoling
Sun, Pingnan
author_sort Zaib, Tahir
collection PubMed
description A comprehensive summary of recent knowledge in syndactyly (SD) is important for understanding the genetic etiology of SD and disease management. Thus, this review article provides background information on SD, as well as insights into phenotypic and genetic heterogeneity, newly identified gene mutations in various SD types, the role of HOXD13 in limb deformities, and recently introduced modern surgical techniques for SD. This article also proposes a procedure for genetic analysis to obtain a clearer genotype–phenotype correlation for SD in the future. We briefly describe the classification of non-syndromic SD based on variable phenotypes to explain different phenotypic features and mutations in the various genes responsible for the pathogenesis of different types of SD. We describe how different types of mutation in HOXD13 cause various types of SD, and how a mutation in HOXD13 could affect its interaction with other genes, which may be one of the reasons behind the differential phenotypes and incomplete penetrance. Furthermore, we also discuss some recently introduced modern surgical techniques, such as free skin grafting, improved flap techniques, and dermal fat grafting in combination with the Z-method incision, which have been successfully practiced clinically with no post-operative complications.
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spelling pubmed-91419132022-05-28 Recent Advances in Syndactyly: Basis, Current Status and Future Perspectives Zaib, Tahir Rashid, Hibba Khan, Hanif Zhou, Xiaoling Sun, Pingnan Genes (Basel) Review A comprehensive summary of recent knowledge in syndactyly (SD) is important for understanding the genetic etiology of SD and disease management. Thus, this review article provides background information on SD, as well as insights into phenotypic and genetic heterogeneity, newly identified gene mutations in various SD types, the role of HOXD13 in limb deformities, and recently introduced modern surgical techniques for SD. This article also proposes a procedure for genetic analysis to obtain a clearer genotype–phenotype correlation for SD in the future. We briefly describe the classification of non-syndromic SD based on variable phenotypes to explain different phenotypic features and mutations in the various genes responsible for the pathogenesis of different types of SD. We describe how different types of mutation in HOXD13 cause various types of SD, and how a mutation in HOXD13 could affect its interaction with other genes, which may be one of the reasons behind the differential phenotypes and incomplete penetrance. Furthermore, we also discuss some recently introduced modern surgical techniques, such as free skin grafting, improved flap techniques, and dermal fat grafting in combination with the Z-method incision, which have been successfully practiced clinically with no post-operative complications. MDPI 2022-04-27 /pmc/articles/PMC9141913/ /pubmed/35627156 http://dx.doi.org/10.3390/genes13050771 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Zaib, Tahir
Rashid, Hibba
Khan, Hanif
Zhou, Xiaoling
Sun, Pingnan
Recent Advances in Syndactyly: Basis, Current Status and Future Perspectives
title Recent Advances in Syndactyly: Basis, Current Status and Future Perspectives
title_full Recent Advances in Syndactyly: Basis, Current Status and Future Perspectives
title_fullStr Recent Advances in Syndactyly: Basis, Current Status and Future Perspectives
title_full_unstemmed Recent Advances in Syndactyly: Basis, Current Status and Future Perspectives
title_short Recent Advances in Syndactyly: Basis, Current Status and Future Perspectives
title_sort recent advances in syndactyly: basis, current status and future perspectives
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9141913/
https://www.ncbi.nlm.nih.gov/pubmed/35627156
http://dx.doi.org/10.3390/genes13050771
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