Inborn errors of development: disruption of pathways critical for normal development.
Traditionally, congenital birth defects have been classified descriptively based on the observed defects. As the genes important for some birth defects have been identified, it is clear that several of the genes mutated in malformation syndromes or genes whose expression is disrupted by environmental agents or teratogens are part of conserved signal transduction pathways. One can consider malformations to be inborn errors of development whereby pathways important for controlling development throughout evolution have been disrupted. This article focuses on three highly conserved pathways and their interactions and provides a framework that allows pediatricians to relate the phenotype of humans who have developmental disorders to the functions of genes in a signal transduction pathway.
Wynshaw-Boris
Anthony
A
Department 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
D019521:Body Patterning; D016764:Cell Polarity; D000013:Congenital Abnormalities / Q000196:embryology*; D005346:Fibroblast Growth Factors / Q000378:metabolism; D030342:Genetic Diseases, Inborn / Q000196:embryology*; D053823:Hedgehog Proteins / Q000378:metabolism; D006801:Humans; D009154:Mutation; D015398:Signal Transduction; D051153:Wnt Proteins / Q000378:metabolism
D053823:Hedgehog Proteins; C509239:SHH protein, human; D051153:Wnt Proteins; D005346:Fibroblast Growth Factors