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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

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Inborn errors of development: disruption of pathways critical for normal development

Anthony Wynshaw-Boris1

  • 1Department of Pediatrics, Center for Human Genetics and Genomics, University of California San Diego School of Medicine, 9500 Gilman Drive, La Jolla, CA 92093-0627, USA. awynshawboris@ucsd.edu

Pediatric Clinics of North America
|October 10, 2006
PubMed

Insights

Congenital birth defects arise from disruptions in evolutionarily conserved developmental pathways. Understanding these signal transduction pathways helps link genetic functions to developmental disorders in children.

Area of Science:

  • Developmental Biology
  • Genetics
  • Pediatrics

Background:

  • Congenital birth defects were historically classified descriptively.
  • Genetic and environmental factors influencing birth defects are increasingly understood.
  • Many causative genes are involved in conserved developmental signal transduction pathways.

Purpose of the Study:

  • To provide a framework for understanding birth defects.
  • To link observed phenotypes in developmental disorders to gene function.
  • To focus on three key conserved signal transduction pathways.

Main Methods:

  • Review of genetic and molecular data on birth defects.
  • Analysis of conserved signal transduction pathways.
  • Integration of pathway function with developmental phenotypes.

Main Results:

  • Identified conserved signal transduction pathways crucial for development.
  • Demonstrated that malformations can be viewed as inborn errors of development.
  • Established relationships between specific pathways and observed phenotypes.

Conclusions:

  • Conserved signal transduction pathways are fundamental to normal development.
  • Disruptions in these pathways lead to congenital birth defects.
  • This pathway-centric approach aids in understanding developmental disorders.

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