Photographs of 11 individuals with a KAT6B pathogenic variant

Arrows point to the relative location of an individual's pathogenic variant in the schematic of the last KAT6B exon (exon 18), the distal part of which encodes the activation domain. Photographs and arrows above the exon schematic are for GPS and those below are for SBBYSS. The four individuals with GPS included within the black box have the same pathogenic variant (Lys1258GlyfsTer13). Short arrows indicate pathogenic variants in individuals not pictured.

Note: Alphanumeric designations above each photograph identify the institution of the author who described the pathogenic variant and the author's order in the publication originally describing the pathogenic variant. These identifiers are also used in the KAT6B mutation database (www.LOVD.nl/KAT6B).

Reprinted from Campeau et al [2012b] with permission from the publisher