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Genetic overview of postaxial polydactyly: Updated classification.
Zaheer Ahmad1, Romana Liaqat2, Oliva Palander3,4
1Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan.
Clinical Genetics
|September 7, 2022
Summary
Polydactyly, a congenital limb defect, can indicate underlying syndromes and follows genetic inheritance patterns. Research explores new genes and loci for non-syndromic postaxial polydactyly, advancing understanding of its complex causes.
Area of Science:
- Genetics
- Developmental Biology
- Clinical Medicine
Background:
- Polydactyly is a congenital limb defect with diverse presentations.
- It can signify underlying syndromes and follows autosomal inheritance patterns, affecting limb development.
- The precise genetic causes and molecular mechanisms of polydactyly remain largely unexplored, suggesting a multifactorial origin.
Purpose of the Study:
- To review emerging evidence on the clinical and molecular characterization of polydactyly.
- To discuss newly associated genes and loci implicated in non-syndromic postaxial polydactyly.
- To explore the impact of these findings on understanding polydactyly's genetic mechanisms and etiology.
Main Methods:
- Literature review of clinical and molecular studies on polydactyly.
- Analysis of reported genetic loci (PAPA1-PAPA11) and genes associated with non-syndromic postaxial polydactyly.
- Synthesis of current knowledge on genetic mechanisms and molecular etiology.
Main Results:
- Polydactyly is classified into radial, ulnar, and central subtypes.
- Seven human genes (e.g., GLI3, DACH1) and 11 loci are linked to non-syndromic postaxial polydactyly.
- Emerging evidence highlights new genetic factors contributing to polydactyly.
Conclusions:
- Understanding the genetic basis of polydactyly is crucial for diagnosis and potential therapies.
- Further research into newly identified genes and loci will refine our knowledge of polydactyly's molecular etiology.
- This review consolidates current understanding and points to future research directions in polydactyly genetics.
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