Article
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.
Nature genetics - 1 Jan 2011
Dauwerse Johannes G, Dixon Jill, Seland Saskia, Ruivenkamp Claudia A L, van Haeringen Arie, Hoefsloot Lies H, Peters Dorien J M, Boers Agnes Clement-de, Daumer-Haas Cornelia, Maiwald Robert, Zweier Christiane, Kerr Bronwyn, Cobo Ana M, Toral Joaquín F, Hoogeboom A Jeannette M, Lohmann Dietmar R, Hehr Ute, Dixon Michael J, Breuning Martijn H, Wieczorek Dagmar
Abstract excerpt
We identified a deletion of a gene encoding a subunit of RNA polymerases I and III, POLR1D, in an individual with Treacher Collins syndrome (TCS). Subsequently, we detected 20 additional heterozygous mutations of POLR1D in 252 individuals with TCS. Furthermore, we discovered mutations in both alleles of POLR1C in three individuals with TCS. These findings identify two additional genes involved in TCS, confirm the...
Topics
- Adult
- Alleles
- Child
- Child, Preschool
- Female
- Genetic Heterogeneity
- Humans
- Male
- Mandibulofacial Dysostosis