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Phenotypes, Developmental Basis, and Genetics of Pierre Robin Complex.

Susan M Motch Perrine1, Meng Wu2, Greg Holmes2

  • 1Department of Anthropology, The Pennsylvania State University, University Park, PA 16802, USA.

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|December 9, 2020
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Summary

Pierre Robin sequence (PRS) involves jaw, airway, and palate issues. This review explores PRS genetics, pathogenesis, and animal models to clarify developmental causes.

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Treacher Collinscleft palatemandiblemicrognathianasopharynxsticklertonguevelocardiofacial syndrome

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Area of Science:

  • Developmental Biology
  • Genetics
  • Medical Science

Background:

  • Pierre Robin sequence (PRS) is a congenital condition characterized by mandibular hypoplasia, glossoptosis, and airway obstruction, often with cleft palate.
  • The precise developmental events and genetic underpinnings leading to PRS remain incompletely understood.
  • Existing research highlights hypothesized causative sequences but lacks clear links between genetic variants, gene expression, cellular processes, and observed anomalies.

Purpose of the Study:

  • To consolidate current knowledge on Pierre Robin sequence phenotypes.
  • To review proposed pathogenetic processes contributing to PRS.
  • To identify key genes associated with PRS and discuss relevant animal models for further research.

Main Methods:

  • Literature review of existing studies on Pierre Robin sequence.
  • Analysis of genetic variants and their potential roles in PRS pathogenesis.
  • Examination of animal models used to study PRS.

Main Results:

  • The review synthesizes information on the diverse clinical presentations of PRS.
  • It outlines proposed developmental pathways and molecular mechanisms implicated in PRS.
  • Key genes and genetic associations with PRS are highlighted, alongside their phenotypic variability.
  • Existing animal models offering insights into PRS etiology are discussed.

Conclusions:

  • A comprehensive understanding of PRS requires integrating genetic, cellular, and developmental perspectives.
  • Further research utilizing animal models is crucial for elucidating the genetic basis and phenotypic spectrum of PRS.
  • Clarifying causal relationships will aid in diagnosis and potential therapeutic strategies for Pierre Robin sequence.