Supplemental Figure 1. Sanger sequencing of biallelicERCC6 variants
The pathogenic maternally inherited c.1583G>A
(p.Gly528Glu) missense variant is shown with the conservation of the
amino acid position shown as well as the whole genome sequencing (WGS)
data and variant call. B. The likely pathogenic paternally
inherited c.-15+3G>T upstream intronic variant is shown
with the conservation of the base as well as the raw WGS data variant
call.
Supplemental Table 1. Characteristics of Cockayne Syndrome and
their frequency compared to patient INE4CC. (+) – present; (-) –
absent; ns – not specified; * Photesensitivity identified afterERCC6 variants identified. In retrospect noted to sunburn easily;
** Initial dilated exams showed normal retinae (age 3.8 years); mild
changes noted only after dilated examination under anesthesia (age 5.5
years); *** Dental anomalies.