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

Cantú syndrome congenital hypertrichosis ABCC9 gene heterozygous missense mutations ATP-binding cassette transporter protein potassium channelopathy KATP channels neonatal diabetes excessive hair growth mutations ATP-binding protein potassium channel disorder

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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Cantú Syndrome Is Caused by Mutations in ABCC9

Research cited in this study

research Minoxidil: Mechanisms of Action on Hair Growth

research Minoxidil Stimulates Elastin Expression in Aortic Smooth Muscle Cells

research Glyburide Blocks the Relaxation Response to BRL 34915 (Cromakalim), Minoxidil Sulfate, and Diazoxide in Vascular Smooth Muscle

research Mechanism of Action of Minoxidil Sulfate-Induced Vasodilation: A Role for Increased Potassium Permeability

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