TCS occurs as a result of mutations in one of the following three genes: TCOF1, POLR1C, and POLR1D (2).
We have identified a novel mutation in the TCOF1 gene in a patient with clinical features compatible with TCS.
Most individuals with TCS are from heterozygotes to a localized mutation in the TCOF1
For example, previous studies [5, 6] found two synonymous mutations in TCOF1
and MPZ gene causing Charcot-Marie-Tooth disease type 1b and Treacher Collins syndrome.
gene complex, which historically has been associated with Treacher-Collins syndrome, appears to be associated with hemifacial microsomia.
The gene responsible for the disorder is TCOF1
, which is located in chromosome 5q31.3-5q33.3, which encodes for nucleoprotein named treacle that causes ribosomal DNA gene transcription through its interaction with upstream binding factor.
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.
Mutations in the TCOF1
gene cause Treacher Collins syndrome.
 The responsible gene is TCOF1
(with the gene product called treacle).
gene is located in 5q31.3-32 and responsible for 78-93% of the mutations related to TCS.
This syndrome is also known as Franceschetti-Klein syndrome and is caused by a mutation in the TCOF1
gene found at the 5q32-33.1 loci.