A new type of ATP-sensitive potassium channelopathy : Cantú syndrome
Hiraki, Y.; Takanari, H.
No to Hattatsu 48(5): 325-331
2016
ISSN/ISBN: 0029-0831 PMID: 30010274 Document Number: 690478
Multiple mutations in Kir6.x and SURx genes have implicated ATP-sensitive potassium (KATP) channels and, as a result, have led to diverse diseases, ranging from diabetes and hyperinsulinism to cardiac arrhythmias and cardiovascular disease. These diseases are referred to as KATP channelopathies. Recently, Cantú syndrome (CS), which was found to be caused by mutations in the ABCC9 or KCNJ8 gene, was newly added to the list of KATP channelopathies. CS is a rare multi-organ disease characterized by congenital hypertrichosis, characteristic face, persistent ductus arteriosus, cardiomegaly, intrauterine overgrowth, and skeletal abnormalities. Congenital hypertrichosis and coarse face have been confirmed in all CS patients. On the other hand, cardiovascular and skeletal abnormalities vary widely in severity, even in some familial cases and in isolated cases sharing the same mutation. Information about genotype-phenotype correlations in CS are described here.