Introduction: Studies into the contribution of genetic factors to respiratory control disorders are scarce, with impediments to their conduct including difficulties in characterizing these disorders, the large number of genes involved in respiratory control, and interactions between genetic and environmental factors.
State of the art: The rare congenital central hypoventilation syndrome (CCHS) has opened up the field of respiratory control genetics. Heterozygous mutations of genes involved in neural crest development were discovered recently. Studies in mutant mice have identified respiratory control disturbances related to loss of function of genes involved in neural crest development, genes encoding transcription factors, diffusible factors, and proteins contributing to neurotransmission.
Perspectives: Future genetic epidemiological studies in humans and new models of mutant mice should describe genes involved in respiratory control. Better knowledge of CCHS genetics should provide guideposts for investigating the genetics of other respiratory control disorders.
Conclusions: Respiratory control genetics is opening up new paths for research into respiratory physiology and pathophysiology.