A Novel Variant of Treacle Ribosome Biogenesis Factor 1 (TCOF1) Gene Manifesting as Treacher Collins Syndrome.

Treacher Collins syndrome (TCS) is a rare genetic disorder. The clinical presentation of this syndrome can vary among members of the same family. The commonly associated genes with TCS are mostly inherited as autosomal dominant; however, rare autosomal recessive inheritance has been reported. We present the case of a one-day-old term male baby diagnosed with TCS wherein the genetic workup revealed a novel pathogenic variant on exon 17, which has not been reported in the literature previously. This is the first case report regarding a novel pathogenic variant within exon 17 of the Treacle Ribosome Biogenesis Factor 1 () gene causing Treacher Collins syndrome.