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MIM.601877 1q42.1

Tuesday 24 July 2007


- germline mutations in heterotaxy (Left-Right axis malformations) with situs ambiguus and visceral isomerism

  • left ventricle hypoplasia, complete atrioventricular canal defect with a common atrioventricular valve, left ventricular outflow-tract obstruction, inferior vena caval drainage to the left of the descending aorta, left-sided superior vena cava; left pulmonary isomerism (10053005)

NB: Members of the transforming growth factor (TGF)-beta family of cell-signaling molecules have been implicated recently in mammalian left-right (LR) axis development, the process by which vertebrates lateralize unpaired organs (e.g., heart, stomach, and spleen).


- Kosaki, K.; Bassi, M. T.; Kosaki, R.; Lewin, M.; Belmont, J.; Schauer, G.; Casey, B. : Characterization and mutation analysis of human LEFTY A and LEFTY B, homologues of murine genes implicated in left-right axis development. Am. J. Hum. Genet. 64: 712-721, 1999. PubMed ID : 10053005