Figure 2
Localization and effect of the C.163C>G mutation. (a) Transcript levels of TCOF1 using quantitative real-time reverse transcription–polymerase chain reaction in leukocyte samples from individuals in Family 1 demonstrating 50% decrease of TCOF1 mRNA in the affected patient and normal levels of transcripts in her unaffected parents and sister. The error bars indicate ± SD. (b) Evolutionary conservation of the amino acid residues affected by missense mutations in the region within exon 3 of POLR1D (black arrows: mutations reported by Dauwerse et al.5; red arrows: mutation reported in the families studied herein).
