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 Computational Algorithms and Artificial Intelligence in Clinical Pharmacogenomics
In the era of personalized medicine, understanding the relationship between genetics and drug response is crucial. This issue delves into innovative methodologies, leveraging deep computational analysis and artificial intelligence, to enhance the field of Clinical Pharmacogenomics. The interdisciplinary approach harnesses the power of advanced high-throughput genotyping technologies, sophisticated computational analysis, ...read more
Applications of Single-cell Sequencing Technology in Reproductive Medicine
Single cell sequencing (SCS) technology utilizes individual cells' genetic material to sequence their genome, transcriptome, and epigenetics at the molecular level. It offers insights into cell heterogeneity and enables the study of limited biological materials. Since its recognition as a valuable technique in 2011, single cell sequencing has yielded numerous ...read more
Big Data in Cancer Research
Cancer is a significant threat to human life and health, remaining a highly aggressive killer. It is a leading cause of death worldwide and represents a crucial medical issue for humanity. However, in the past decade, the effectiveness of new synthetic anticancer agents has not matched the current clinical speculation. ...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
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
-
Adenoid Hypertrophy, Craniofacial Growth and Obstructive Sleep Apnea: A Crucial Triad in Children
Current Respiratory Medicine Reviews Infants and Children with Tachycardia: Natural History and Drug Administration
Current Pharmaceutical Design Congenital Malformations Attributed to Prenatal Exposure to Cyclophosphamide
Anti-Cancer Agents in Medicinal Chemistry Indications for Heart Transplantation in Congenital Heart Disease
Current Cardiology Reviews Coarctation of the Aorta - An Evolution of Therapeutic Options
Current Cardiology Reviews Therapeutic Utilities of Pediatric Cardiac Catheterization
Current Cardiology Reviews Pharmacological Manipulation of Peripheral Vascular Resistance in Single Ventricle Patients (Stages I, II, and III of Palliation)
Current Vascular Pharmacology Current Pharmacologic Management of Pediatric Heart Failure in Congenital Heart Disease
Current Vascular Pharmacology Remote Control of Pulmonary Blood Flow
Current Cardiology Reviews Clinical Presentations and Diagnosis of Brucellosis
Recent Patents on Anti-Infective Drug Discovery Congenital Heart Disease: The Crossroads of Genetics, Epigenetics and Environment
Current Genomics Cardiac Resynchronization Therapy in Children
Current Cardiology Reviews Aetiology, Diagnosis and Treatment of Hydrops Foetalis
Current Pediatric Reviews Coarctation of the Aorta - The Current State of Surgical and Transcatheter Therapies
Current Cardiology Reviews Tetralogy of Fallot and Hypoplastic Left Heart Syndrome – Complex Clinical Phenotypes Meet Complex Genetic Networks
Current Genomics Psychosocial Implications During Adolescence for Infant Heart Transplant Recipients
Current Cardiology Reviews Clinical and Pharmacological Aspects of Immunoprophylaxis for Respiratory Syncytial Virus Infection in High-Risk Infants
Current Drug Metabolism Human Induced Pluripotent Stem Cells for Inherited Cardiovascular Diseases Modeling
Current Stem Cell Research & Therapy Vasoactive Compounds in the Neonatal Period
Current Medicinal Chemistry The Role of Venous Abnormalities in Neurological Disease
Reviews on Recent Clinical Trials