Aortic aneurysm and craniosynostosis in a family with Cantu syndrome. Issue 1 (25th November 2013)

• Record Type: Journal Article
• Authors: Hiraki, Yoko; Miyatake, Satoko; Hayashidani, Michiko; Nishimura, Yutaka; Matsuura, Hiroo; Kamada, Masahiro; Kawagoe, Takuji; Yunoki, Keiji; Okamoto, Nobuhiko; Yofune, Hiroko; Nakashima, Mitsuko; Tsurusaki, Yoshinori; Satisu, Hirotomo; Murakami, Akira; Miyake, Noriko; Nishimura, Gen; Matsumoto, Naomichi
• Is Part Of: American journal of medical genetics. Volume 164:Issue 1(2014.)
• Page Start: 231
• Page End: 236
• Publication Date: 2013-11-25
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36228
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Abstract</title> <sec id="ajmga36228-sec-0001" sec-type="section"> <p>Cantu syndrome is an autosomal dominant overgrowth syndrome associated with facial dysmorphism, congenital hypertrichosis, and cardiomegaly. Some affected individuals show bone undermodeling of variable severity. Recent investigations revealed that the disorder is caused by a mutation in <italic>ABCC9</italic>, encoding a regulatory SUR2 subunit of an ATP‐sensitive potassium channel mainly expressed in cardiac and skeletal muscle as well as vascular smooth muscle. We report here on a Japanese family with this syndrome. An affected boy and his father had a novel missense mutation in <italic>ABCC9</italic>. Each patient had a coarse face and hypertrichosis. However, cardiomegaly was seen only in the boy, and macrosomia only in the father. Skeletal changes were not evident in either patient. Craniosynostosis in the boy and the development of aortic aneurysm in the father are previously undescribed associations with Cantu syndrome. © 2013 Wiley Periodicals, Inc.</p> </sec> </abstract>