title: Aortic aneurysm and craniosynostosis in a family with Cantu syndrome.
abstract: 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 ABCC9, 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 ABCC9. 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.
authors.affiliation: Hiroshima Municipal Center for Child Health and Development, Hiroshima, Japan.
authors.forename: Yoko
authors.initials: Y
authors.lastname: Hiraki
authors.forename: Satoko
authors.initials: S
authors.lastname: Miyatake
authors.forename: Michiko
authors.initials: M
authors.lastname: Hayashidani
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Nishimura
authors.forename: Hiroo
authors.initials: H
authors.lastname: Matsuura
authors.forename: Masahiro
authors.initials: M
authors.lastname: Kamada
authors.forename: Takuji
authors.initials: T
authors.lastname: Kawagoe
authors.forename: Keiji
authors.initials: K
authors.lastname: Yunoki
authors.forename: Nobuhiko
authors.initials: N
authors.lastname: Okamoto
authors.forename: Hiroko
authors.initials: H
authors.lastname: Yofune
authors.forename: Mitsuko
authors.initials: M
authors.lastname: Nakashima
authors.forename: Yoshinori
authors.initials: Y
authors.lastname: Tsurusaki
authors.forename: Hirotomo
authors.initials: H
authors.lastname: Satisu
authors.forename: Akira
authors.initials: A
authors.lastname: Murakami
authors.forename: Noriko
authors.initials: N
authors.lastname: Miyake
authors.forename: Gen
authors.initials: G
authors.lastname: Nishimura
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001014:Aortic Aneurysm / Q000175:diagnosis* / Q000235:genetics; D017545:Aortic Aneurysm, Thoracic / Q000000981:diagnostic imaging / Q000473:pathology; D001483:Base Sequence; D001921:Brain / Q000473:pathology; D006332:Cardiomegaly / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D002675:Child, Preschool; D003398:Craniosynostoses / Q000175:diagnosis* / Q000235:genetics; D004252:DNA Mutational Analysis; D019066:Facies; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D006983:Hypertrichosis / Q000175:diagnosis* / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000235:genetics; D010641:Phenotype; D011859:Radiography; D064233:Sulfonylurea Receptors / Q000737:chemistry / Q000235:genetics; D013577:Syndrome
chemical_list: C577510:ABCC9 protein, human; D064233:Sulfonylurea Receptors
keywords: ABCC9; Cantu syndrome; aortic aneurysm; craniosynostosis; familial mutation