Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome

Tadashi Kaname, Kumiko Yanagi, Yasutsugu Chinen, Yoshio Makita, Nobuhiko Okamoto, Hiroki Maehara, Ichiro Owan, Fuminori Kanaya, Yoshiaki Kubota, Yuichi Oike, Toshiyuki Yamamoto, Kenji Kurosawa, Yoshimitsu Fukushima, Axel Bohring, John M. Opitz, Ko Ichiro Yoshiura, Norio Niikawa, Kenji Naritomi

Research output: Contribution to journalArticlepeer-review

40 Citations (Scopus)


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 (839CrT, 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.

Original languageEnglish
Pages (from-to)835-841
Number of pages7
JournalAmerican Journal of Human Genetics
Issue number4
Publication statusPublished - 2007

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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