Ontology highlight
ABSTRACT:
SUBMITTER: Toro C
PROVIDER: S-EPMC5886272 | biostudies-literature | 2018 Feb
REPOSITORIES: biostudies-literature
Toro Camilo C Hori Roderick T RT Malicdan May Christine V MCV Tifft Cynthia J CJ Goldstein Amy A Gahl William A WA Adams David R DR Fauni Harper B HB Wolfe Lynne A LA Xiao Jianfeng J Khan Mohammad M MM Tian Jun J Hope Kevin A KA Reiter Lawrence T LT Tremblay Michel G MG Moss Tom T Franks Alexis L AL Balak Chris C LeDoux Mark S MS
Human molecular genetics 20180201 4
UBTF (upstream binding transcription factor) exists as two isoforms; UBTF1 regulates rRNA transcription by RNA polymerase 1, whereas UBTF2 regulates mRNA transcription by RNA polymerase 2. Herein, we describe 4 patients with very similar patterns of neuroregression due to recurrent de novo mutations in UBTF (GRCh37/hg19, NC_000017.10: g.42290219C > T, NM_014233.3: c.628G > A) resulting in the same amino acid change in both UBTF1 and UBTF2 (p.Glu210Lys [p.E210K]). Disease onset in our cohort was ...[more]