CD96 and C syndrome

A missense mutation in CD96 has been implicated in the etiology of C syndrome. In a study of patients with features of Opitz trigonocephaly, a single proband was found to carry the variant c.791C>T (p.Thr264Met) (PMID:17847009). This variant was not detected in a screening of 420 control individuals, and there is currently no evidence of additional familial segregation. The genetic evidence—based on one unrelated case—remains limited, warranting further investigation to definitively establish the relationship between CD96 alterations and the C syndrome phenotype.

Functional studies provided further support by demonstrating that the mutant CD96 protein exhibits defective cell adhesion and growth properties in vitro (PMID:17847009). This experimental data, although moderate in strength, correlates with the clinical features observed in C syndrome, including redundant skin, abnormal facial shape, limb anomalies, and trigonocephaly. Overall, while the genetic evidence is limited to a single case, the supportive functional data underscores the potential role of CD96 in disease pathogenesis and suggests that its assessment could aid diagnostic decision‑making and guide future research and commercial development.

References

• American journal of human genetics • 2007 • Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome PMID:17847009

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