Illustration from Scientific Research

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

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