Kyriazis Z, Kollia P, Grivea I, Sotiriou S, Dailiana ZH. Genetics of congenital anomalies of the hand. World J Orthop 2022; 13(11): 949-954 [PMID: 36439370 DOI: 10.5312/wjo.v13.i11.949]
Corresponding Author of This Article
Zoe H Dailiana, MD, PhD, Professor, Surgeon, Department of Orthopaedic Surgery, Faculty of Medicine, School of Health Sciences, University of Thessaly, No. 3 Panepistimiou Street, Biopolis, Larissa 41500, Greece. dailiana@med.uth.gr
Research Domain of This Article
Orthopedics
Article-Type of This Article
Editorial
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Zisis Kyriazis, Zoe H Dailiana, Department of Orthopaedic Surgery, Faculty of Medicine, School of Health Sciences, University of Thessaly, Larissa 41500, Greece
Panagoula Kollia, Department of Genetics and Biotechnology, Faculty of Biology, National and Kapodistrian University of Athens, Athens 10679, Greece
Ioanna Grivea, Department of Paediatrics, Faculty of Medicine, School of Health Sciences, University of Thessaly, Larissa 41500, Greece
Sotirios Sotiriou, Laboratory of Histology and Embryology, Faculty of Medicine, School of Health Sciences, University of Thessaly, Larissa 41500, Greece
Author contributions: Kyriazis Z wrote the paper and participated in the analysis and drafting of the literature data; Kollia P participated in the conception and design of the study, analysis and interpretation of the literature data, and critical revision of the article; Grivea I and Sotiriou S participated in analysis and interpretation of the literature data and critical revision of the article; Dailiana ZH participated in the conception and design of the study, analysis and interpretation of the literature data, and drafting and critical revision of the article; all authors actively reviewed and revised the manuscript and approved the finally submitted manuscript.
Conflict-of-interest statement: All the authors have no conflict of interest related to the manuscript.
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Zoe H Dailiana, MD, PhD, Professor, Surgeon, Department of Orthopaedic Surgery, Faculty of Medicine, School of Health Sciences, University of Thessaly, No. 3 Panepistimiou Street, Biopolis, Larissa 41500, Greece. dailiana@med.uth.gr
Received: August 29, 2022 Peer-review started: August 29, 2022 First decision: September 26, 2022 Revised: October 9, 2022 Accepted: October 14, 2022 Article in press: October 14, 2022 Published online: November 18, 2022 Processing time: 78 Days and 16.4 Hours
Abstract
Congenital anomalies of the hand are malformations occurring during the development of the human limb, and present as isolated disorders or as a part of a syndrome. During the last years, molecular analysis techniques have offered increasing knowledge about the molecular basis of hand malformations. Disturbances in the signaling pathways during the development of the upper limb result in malformations of the upper extremity. At present, several genes have been identified as responsible for hand anomalies and other have been recognized as suspect genes related to them. Different and new high throughput methods have been introduced for the identification of the gene mutations. In the current editorial, we summarize concisely the current molecular status of isolated hand genetic disorders and the recent progress in molecular genetics, including the genes related to the disorder. This progress improves the knowledge of these disorders and has implications on genetic counselling and prenatal diagnosis.
Core Tip: The genetic basis of hand disorders is elucidated by the expansion of knowledge and introduction of molecular analysis techniques which contribute to the identification of new genes responsible for them. New genes and mutations are being isolated and correlated with the disorder based on the advances in sequencing technology, such as next generation sequencing and genetic consultation, and future therapeutic developments are enhanced. There appears to be a gap in the literature concerning the knowledge about the genetic basis of all hand disorders. The current molecular status of them is discussed and a summary of different genes, already identified or suspected to be related with them, is presented.
