The TCOF1 gene sequencing revealed a novel mutation c.
To date, about 200 different other pathogenic mutations have been reported in the coding region of TCOF1.
The TCOF1 gene complex, which historically has been associated with Treacher-Collins syndrome, appears to be associated with hemifacial microsomia.
Mutations and new polymorphic changes in the TCOF1 gene of patients with oculo-auriculo-vertebral spectrum and Treacher-Colllins syndrome.
Mutation in TCOF1 genes reduces the amount of treacle that is produced in the cells and develops the disorder which includes abnormal craniofacial development.
DNA analysis in most cases (90-95%) cases shows mutation in TCOF1 gene.
La mutacion del gen TCOF1, donde se codifica la proteina treacle , esta encargada de la migracion de las estructuras de la cara, en especial a las porciones derivadas del primer y segundo arco braquial.
Se pueden realizar estudios geneticos para hallar alteraciones del gen TCOF1, aunque estos no siempre resultan positivos.
gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins syndrome throughout its coding region.
Mutations in the TCOF1
gene cause Treacher Collins syndrome.
8] The responsible gene is TCOF1
(with the gene product called treacle).
This syndrome is also known as Franceschetti-Klein syndrome and is caused by a mutation in the TCOF1
gene found at the 5q32-33.