Treacher Collins Syndrome: The genetics of a craniofacial disease

The characteristics of craniofacial and cervicovertebral morphology in different genetic syndromes: A literature review and three case reports

“…It is recommended that orthodontic and dental corrections should be undertaken once definitive skeletal repair is finalized. 33,34,44,49,82 Clinical examination allows observing many craniofacial changes of these syndromes, but many abnormalities of the cervical spine do not manifest themselves symptomatically until adolescence or young adulthood. The cervical spine anomalies can be divided into syndromic and nonsyndromic malformations.…”

“…TCOF1 mutations occur in over 93% of TCS patients, but mutations can also occur in polymerase (RNA) I polypeptide C (POLR1C) and polypeptide D (POLR1D) genes. 31,48,49 TCOF1 contains 26 exons and encodes a 1411 amino acid phosphoprotein named treacle that may serve as a link between ribosomal RNA (rRNA) gene transcription and pre-RNA processing. It is involved in the production of rRNA that helps assemble amino acids into functioning proteins, which is essential for normal functioning and survival of cells.…”

Genetic Factors in Selected Complex Congenital Malformations with Cleft Defect

“…There are three types of Treacher Collins syndrome, depending on the genetic background. More than 90% of TCS is TCS1, caused by an autosomal dominant mutation of the TCOF1 gene (Treacher Collins-Franceschetti syndrome 1), are located on the long arm of chromosome 5 (5q32) [56]. About 60% are de novo mutations, with the remaining 40% mutations inherited from parents.…”

Proliferation and arrest

“…5). The disorder is bilateral and genetically heterogeneous with TCS1 (154500) caused by mutations in TCOF1 (606847), TCS2 (613717) caused by mutations in POLR1D (613715) and TCS3 (248390) caused by mutations in POLR1C (610060) [110]. TCS1 and TCS2 are autosomal dominant whereas TCS3 is autosomal recessive.…”