Fig. 3

Pathogenic GGC repeat expansion in the 5′ untranslated region (UTR) of XYLT1. This variation was characterized in a patient known to have Baratela-Scott syndrome caused by expansion of a maternal premutation allele and paternally inherited deletion [15]. The expansion leads to hypermethylation (red) of the UTR and surrounding area. The father did not carry the expansion; however, some level of methylation was detected in the mother, who was heterozygous for a premutation allele