Do unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder?
We consider that haploinsufficiency not limited to LETM1 but including other genes acts as a risk factor for the WHS-associated seizure disorder, according to a comorbidity model of pathogenesis. Additional candidate genes reside in the terminal 1.5 Mb region on 4p, most likely distal to LETM1. A PowerPoint slide summarizing this article is available for download in the Supporting Information section here.
It is difficult to predict child HRQOL based on clinical measurements. However, parent HRQOL tends to be worse with poorer control and larger angle of deviation. Perhaps HRQOL should be routinely assessed in clinic alongside clinical measurements in order to tailor management appropriately.