Cantú Syndrome Resulting from Activating Mutation in the KCNJ8 Gene. Issue 7 (6th May 2014)

• Record Type: Journal Article
• Authors: Cooper, Paige E.; Reutter, Heiko; Woelfle, Joachim; Engels, Hartmut; Grange, Dorothy K.; van Haaften, Gijs; van Bon, Bregje W.; Hoischen, Alexander; Nichols, Colin G.
• Is Part Of: Human mutation. Volume 35:Issue 7(2014:Jul.)
• Page Start: 809
• Page End: 813
• Publication Date: 2014-05-06
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22555
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22555-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Cantu Syndrome (CS) is a rare multi‐organ disorder, characterized by hypertrichosis, cranio‐facial and musculo‐skeletal abnormalities, lymphedema and a host of cardiovascular complications. We now show that, in addition to gain‐of‐function (GOF) in the ATP‐sensitive potassium (K_ATP) channel regulatory sulfonylurea receptor subunit gene (<italic>ABCC9</italic>), CS can also result from GOF in the K_ATP pore‐forming subunit gene (<italic>KCNJ8</italic>). This demonstrates a novel causal gene and confirms that CS features result from GOF in K_ATP channel activity, not from non‐channel functions of <italic>ABCC9</italic>. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pghmgm4vfv" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>