Article
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.
Nature communications - 7 Jul 2015
Thiffault Isabelle, Wolf Nicole I, Forget Diane, Guerrero Kether, Tran Luan T, Choquet Karine, Lavallée-Adam Mathieu, Poitras Christian, Brais Bernard, Yoon Grace, Sztriha Laszlo, Webster Richard I, Timmann Dagmar, van de Warrenburg Bart P, Seeger Jürgen, Zimmermann Alíz, Máté Adrienn, Goizet Cyril, Fung Eva, van der Knaap Marjo S, Fribourg Sébastien, Vanderver Adeline, Simons Cas, Taft Ryan J, Yates John R, Coulombe Benoit, Bernard Geneviève
Abstract excerpt
A small proportion of 4H (Hypomyelination, Hypodontia and Hypogonadotropic Hypogonadism) or RNA polymerase III (POLR3)-related leukodystrophy cases are negative for mutations in the previously identified causative genes POLR3A and POLR3B. Here we report eight of these cases carrying recessive mutations in POLR1C, a gene encoding a shared POLR1 and POLR3 subunit, also mutated in some Treacher Collins syndrome...
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