Abstract
Syndactyly, webbing of adjacent digits with or without bony fusion, is one of the most common hereditary limb malformations. It occurs either as an isolated abnormality or as a component of more than 300 syndromic anomalies. There are currently nine types of phenotypically diverse nonsyndromic syndactyly. Non-syndromic syndactyly is usually inherited as an autosomal dominant trait, although the more severe presenting types and subtypes may show autosomal recessive or X-linked pattern of inheritance. The phenotype appears to be not only caused by a main gene, but also dependant on genetic background and subsequent signaling pathways involved in limb formation. So far, the principal genes identified to be involved in congenital syndactyly are mainly involved in the zone of polarizing activity and sonic hedgehog pathway. This review summarizes the recent progress made in the molecular genetics, including known genes and loci responsible for non-syndromic syndactyly, and the signaling pathways those genetic factors involved in, as well as clinical features and animal models. We hope our review will contribute to the understanding of underlying pathogenesis of this complicated disorder and have implication on genetic counseling.
Keywords: Heterogeneity, Limb malformation, Molecular genetics, Mutation, Syndactyly, Webbed digits.
Current Genomics
Title:Advances in the Molecular Genetics of Non-syndromic Syndactyly
Volume: 16 Issue: 3
Author(s): Hao Deng and Ting Tan
Affiliation:
Keywords: Heterogeneity, Limb malformation, Molecular genetics, Mutation, Syndactyly, Webbed digits.
Abstract: Syndactyly, webbing of adjacent digits with or without bony fusion, is one of the most common hereditary limb malformations. It occurs either as an isolated abnormality or as a component of more than 300 syndromic anomalies. There are currently nine types of phenotypically diverse nonsyndromic syndactyly. Non-syndromic syndactyly is usually inherited as an autosomal dominant trait, although the more severe presenting types and subtypes may show autosomal recessive or X-linked pattern of inheritance. The phenotype appears to be not only caused by a main gene, but also dependant on genetic background and subsequent signaling pathways involved in limb formation. So far, the principal genes identified to be involved in congenital syndactyly are mainly involved in the zone of polarizing activity and sonic hedgehog pathway. This review summarizes the recent progress made in the molecular genetics, including known genes and loci responsible for non-syndromic syndactyly, and the signaling pathways those genetic factors involved in, as well as clinical features and animal models. We hope our review will contribute to the understanding of underlying pathogenesis of this complicated disorder and have implication on genetic counseling.
Export Options
About this article
Cite this article as:
Deng Hao and Tan Ting, Advances in the Molecular Genetics of Non-syndromic Syndactyly, Current Genomics 2015; 16 (3) . https://dx.doi.org/10.2174/1389202916666150317233103
DOI https://dx.doi.org/10.2174/1389202916666150317233103 |
Print ISSN 1389-2029 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5488 |
Call for Papers in Thematic Issues
Advanced AI Techniques in Big Genomic Data Analysis
The thematic issue on "Advanced AI Techniques in Big Genomic Data Analysis" aims to explore the cutting-edge methodologies and applications of artificial intelligence (AI) in the realm of genomic research, where vast amounts of data pose both challenges and opportunities. This issue will cover a broad spectrum of AI-driven strategies, ...read more
Current Genomics in Cardiovascular Research
Cardiovascular diseases are the main cause of death in the world, in recent years we have had important advances in the interaction between cardiovascular disease and genomics. In this Research Topic, we intend for researchers to present their results with a focus on basic, translational and clinical investigations associated with ...read more
Deep learning in Single Cell Analysis
The field of biology is undergoing a revolution in our ability to study individual cells at the molecular level, and to integrate data from multiple sources and modalities. This has been made possible by advances in technologies for single-cell sequencing, multi-omics profiling, spatial transcriptomics, and high-throughput imaging, as well as ...read more
Genomic Insights into Oncology: Harnessing Machine Learning for Breakthroughs in Cancer Genomics.
This special issue aims to explore the cutting-edge intersection of genomics and oncology, with a strong emphasis on original data and experimental validation. While maintaining the focus on how machine learning and advanced data analysis techniques are revolutionizing our understanding and treatment of cancer, this issue will prioritize contributions that ...read more
Related Journals
- Author Guidelines
- Graphical Abstracts
- Fabricating and Stating False Information
- Research Misconduct
- Post Publication Discussions and Corrections
- Publishing Ethics and Rectitude
- Increase Visibility of Your Article
- Archiving Policies
- Peer Review Workflow
- Order Your Article Before Print
- Promote Your Article
- Manuscript Transfer Facility
- Editorial Policies
- Allegations from Whistleblowers
- Announcements
Related Articles
-
Pulmonary Circulation and Pulmonary Function in Neonatal Lung Hypoplasia:Treatment with Corticosteroids
Current Pediatric Reviews Sedation and Analgesia in Pediatric Intensive Care
Current Drug Targets 30 Years Lost in Anesthesia Theory
Cardiovascular & Hematological Agents in Medicinal Chemistry Congenital Heart Disease: The Crossroads of Genetics, Epigenetics and Environment
Current Genomics Retinoid-Induced Limb Malformations
Current Pharmaceutical Design Coarctation of the Aorta - The Current State of Surgical and Transcatheter Therapies
Current Cardiology Reviews The Patient with a Single Cardiac Ventricle
Current Pediatric Reviews A Stress Repair Mechanism That Maintains Vertebrate Structure During Stress
Cardiovascular & Hematological Disorders-Drug Targets Remote Control of Pulmonary Blood Flow
Current Cardiology Reviews Heart Transplantation in Biventricular Congenital Heart Disease: Indications, Techniques, and Outcomes
Current Cardiology Reviews Hemodynamic Monitoring in the Acute Management of Pediatric Heart Failure
Current Cardiology Reviews Pathophysiology of Post-Operative Low Cardiac Output Syndrome
Current Vascular Pharmacology Pharmacological Manipulation of Peripheral Vascular Resistance in Single Ventricle Patients (Stages I, II, and III of Palliation)
Current Vascular Pharmacology Pulmonary Vasodilators in the Management of Low Cardiac Output Syndrome After Pediatric Cardiac Surgery
Current Vascular Pharmacology Does Data Shape Moral Decision? Or Do Values Shape the Data?
Current Pediatric Reviews Neurodevelopmental Delay and Intellectual Disability in Pediatric Heart Transplant
Current Psychiatry Reviews Interaction of the Heart and Lungs During Exercise: Physiology and Pathophysiology in Children with Congenital Heart Disease
Current Respiratory Medicine Reviews Impact of Pulmonary Vascular Resistances in Heart Transplantation for Congenital Heart Disease
Current Cardiology Reviews Genomic and Epigenetic Complexity of the FOXF1 Locus in 16q24.1: Implications for Development and Disease
Current Genomics Vasoactive Compounds in the Neonatal Period
Current Medicinal Chemistry