Expanding the Phenotype of Treacher Collins Syndrome?

Abstract

Treacher Collins Syndrome (TCS) is a congenital disorder of craniofacial development with variable phenotypic expression. Multiple genes have been implicated in TCS presentation, however most reported cases are caused by mutations in the TCOF1 gene. Here, we provide a description of a male infant with a familial mutation (c.4218dupG) in TCOF1 and concomitant holoprosencephaly (HPE), dysgenesis of the corpus callosum and cutis aplasia. Genetic analysis of common genes associated with HPE revealed a previously unreported variant of uncertain significance in the SIX3 gene but no definitive causal mutation. This is the first known case report of a CNS migrational malformation in TCS