Pathology
CD96 mutations may cause a form of the C syndrome (MIM.211750) by interfering with cell adhesion and growth.
- The C syndrome (MIM.211750) is characterized by trigonocephaly and associated anomalies, such as unusual facies, psychomotor retardation, redundant skin, joint and limb abnormalities, and visceral anomalies.
References
Kaname T, Yanagi K, Chinen Y, Makita Y, Okamoto N, Maehara H, Owan I, Kanaya F, Kubota Y, Oike Y, Yamamoto T, Kurosawa K, Fukushima Y, Bohring A, Opitz JM, Yoshiura K, Niikawa N, Naritomi K. Mutations in CD96, a Member of the Immunoglobulin Superfamily, Cause a Form of the C (Opitz Trigonocephaly) Syndrome. Am J Hum Genet. 2007 Oct;81(4):835-41. PMID: 17847009
Fuchs, A.; Cella, M.; Giurisato, E.; Shaw, A. S.; Colonna, M. : Cutting edge: CD96 (tactile) promotes NK cell-target cell adhesion by interacting with the poliovirus receptor (CD155). J. Immun. 172: 3994-3998, 2004. PMID : 15034010
Wang, P. L.; O’Farrell, S.; Clayberger, C.; Krensky, A. M. : Identification and molecular cloning of Tactile: a novel human T cell activation antigen that is a member of the Ig gene superfamily. J. Immun. 148: 2600-2608, 1992. PMID : #131384