Cantú Syndrome Is Caused by Mutations in ABCC9

    May 2012 in “ The American Journal of Human Genetics ”
    Bregje W.M. van Bon, Christian Gilissen, Dorothy K. Grange, R Hennekam, Hülya Kayserili, Hartmut Engels, Heiko Reutter, John R. Østergaard, Éva Morava, Konstantinos Tsiakas, Bertrand Isidor, M Le Merrer, Metin Eser, Nienke Wieskamp, Petra de Vries, Marloes Steehouwer, Joris A. Veltman, Stephen P. Robertson, Wouter Steyaert, Bert B.A. de Vries, Alexander Hoischen
    TLDR Cantú syndrome is caused by mutations in the ABCC9 gene.
    Cantú Syndrome was found to be caused by mutations in the ABCC9 gene, which encodes the sulfonylurea receptor (SUR2) part of ATP-sensitive potassium channels (KATP channels). The study identified 11 mutations in ABCC9 among 14 individuals, with many affecting the Arg1154 residue in exon 27, indicating a dominant disease mechanism. These mutations led to overactivation of KATP channels, similar to mechanisms in neonatal diabetes caused by ABCC8 mutations. This discovery provided a clear genetic basis for Cantú Syndrome, characterized by congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly, and suggested potential therapeutic strategies targeting KATP channels.
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