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Review of literature: genes related to postaxial polydactyly

Prashant Kumar Verma1, Ashraf A El-Harouni2

  • 1Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University , Jeddah , Saudi Arabia.

Frontiers in Pediatrics
|February 27, 2015
PubMed

Insights

Postaxial polydactyly (PAP) is often linked to genetic disorders. Cilia-related genes are most commonly associated with PAP, often through the Shh-Gli3 pathway, aiding diagnosis and genetic counseling.

Area of Science:

  • Genetics
  • Developmental Biology
  • Medical Research

Background:

  • Postaxial polydactyly (PAP) is a frequent congenital malformation, frequently associated with various syndromes.
  • Current literature lacks a primary investigational strategy for PAP cases stemming from single-gene disorders.
  • Molecular classification of PAP can offer a structured diagnostic approach.

Purpose of the Study:

  • To analyze and classify single-gene disorders associated with postaxial polydactyly (PAP).
  • To establish a molecular basis for understanding PAP.
  • To aid in the diagnostic approach for PAP cases.

Main Methods:

  • Systematic review of single-gene disorders linked to PAP.
  • Analysis of data from PubMed and OMIM databases.
  • Classification of disorders based on molecular pathways.

Main Results:

  • Genes involved in cilia structure and function are predominantly associated with PAP, categorized as ciliopathies.
  • Non-ciliopathy PAP cases most frequently involve genes within the Shh-Gli3 pathway.
  • Cilia-related genes show an indirect link to the Shh-Gli3 signaling pathway.

Conclusions:

  • Cilia-related genes are the most common genetic cause of PAP, often via indirect effects on the Shh-Gli3 pathway.
  • PAP may initially present as an isolated finding in ciliopathies, necessitating careful follow-up.
  • Molecular classification is crucial for accurate diagnosis, management, genetic counseling, and understanding pleiotropy.
Abstract

Keywords:
approachciliagenehedgehog proteininvestigationmolecular approachpostaxial polydactylysignal pathwayssonic hedgehog

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