title: Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome.
abstract: The C syndrome is characterized by trigonocephaly and associated anomalies, such as unusual facies, psychomotor retardation, redundant skin, joint and limb abnormalities, and visceral anomalies. In an individual with the C syndrome who harbors a balanced chromosomal translocation, t(3;18)(q13.13;q12.1), we discovered that the TACTILE gene for CD96, a member of the immunoglobulin superfamily, was disrupted at the 3q13.3 breakpoint. In mutation analysis of nine karyotypically normal patients given diagnoses of the C or C-like syndrome, we identified a missense mutation (839C-->T, T280M) in exon 6 of the CD96 gene in one patient with the C-like syndrome. The missense mutation was not found among 420 unaffected Japanese individuals. Cells with mutated CD96 protein (T280M) lost adhesion and growth activities in vitro. These findings indicate that CD96 mutations may cause a form of the C syndrome by interfering with cell adhesion and growth.
authors.affiliation: Department of Medical Genetics, University of the Ryukyus Faculty of Medicine, Nishihara, Okinawa, Japan. tkaname@med.u-ryukyu.ac.jp
authors.forename: Tadashi
authors.initials: T
authors.lastname: Kaname
authors.forename: Kumiko
authors.initials: K
authors.lastname: Yanagi
authors.forename: Yasutsugu
authors.initials: Y
authors.lastname: Chinen
authors.forename: Yoshio
authors.initials: Y
authors.lastname: Makita
authors.forename: Nobuhiko
authors.initials: N
authors.lastname: Okamoto
authors.forename: Hiroki
authors.initials: H
authors.lastname: Maehara
authors.forename: Ichiro
authors.initials: I
authors.lastname: Owan
authors.forename: Fuminori
authors.initials: F
authors.lastname: Kanaya
authors.forename: Yoshiaki
authors.initials: Y
authors.lastname: Kubota
authors.forename: Yuichi
authors.initials: Y
authors.lastname: Oike
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Yamamoto
authors.forename: Kenji
authors.initials: K
authors.lastname: Kurosawa
authors.forename: Yoshimitsu
authors.initials: Y
authors.lastname: Fukushima
authors.forename: Axel
authors.initials: A
authors.lastname: Bohring
authors.forename: John M
authors.initials: JM
authors.lastname: Opitz
authors.forename: Ko-Ichiro
authors.initials: K
authors.lastname: Yoshiura
authors.forename: Norio
authors.initials: N
authors.lastname: Niikawa
authors.forename: Kenji
authors.initials: K
authors.lastname: Naritomi
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000276:immunology*; D000818:Animals; D015703:Antigens, CD / Q000235:genetics*; D001483:Base Sequence; D002448:Cell Adhesion / Q000235:genetics; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000235:genetics* / Q000276:immunology*; D017931:DNA Primers / Q000235:genetics; D005260:Female; D015870:Gene Expression; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D051379:Mice; D009154:Mutation; D020125:Mutation, Missense; D010641:Phenotype; D013577:Syndrome; D014178:Translocation, Genetic
chemical_list: D015703:Antigens, CD; C116131:CD96 antigen; D017931:DNA Primers