Polydactyly: how many disorders and how many genes? 2010 update
1Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA. leslieb@helix.nih.gov
Summary
Cataloging genes mutated in polydactyly aids understanding of limb development. This review updates polydactyly phenotypes and associated genes, revealing genetic complexity and paving the way for limb anomaly therapies.
Area of Science:
- Developmental Biology
- Human Genetics
- Clinical Medicine
Background:
- Limb development is crucial, with polydactyly being a common anomaly arising from disrupted anterior-posterior patterning.
- Human disorders involving polydactyly are diverse, necessitating a comprehensive understanding of the underlying genetic basis.
Purpose of the Study:
- To update the catalog of human polydactyly entities by correlating phenotypes with mutated genes.
- To provide a resource for understanding the genetic factors influencing limb development and polydactyly.
Main Methods:
- Systematic review and characterization of human polydactyly phenotypes.
- Identification and cataloging of genes associated with these phenotypes based on existing literature and recent advances.
Main Results:
- The study reviewed 310 clinical entities associated with polydactyly.
- Eighty of these entities are linked to mutations in 99 distinct genes.
- The findings highlight overlapping manifestations, genetic heterogeneity, and distinct phenotypes from single-gene mutations.
Conclusions:
- Knowledge of limb patterning genetics is rapidly advancing.
- A comprehensive gene toolkit for limb development is emerging, promising future regenerative therapies for limb anomalies.
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