Treacher Collins Syndrome

Treacher Collins Syndrome is a disorder that affects the craniofacial development of fetuses. Typical features of this disorder are sunken eyes, cleft palate, malformation of the external ear and hearing loss (UniProt). Treacher Collins is an autosomal dominant disorder, however less than 1% can follow autosomal recessive (OMIM). About 60% of affected individuals received the disorder as the result of a de novo mutation, meaning an offspring can get the disorder with two healthy normal parents (Katsanis and Wang). The protein that is affected in this disease is called treacle protein isoform d, which is thought to play a role in the embryonic craniofacial development. There are three genes that are known to be causative: TCOF1 (78%-93% affected),