Figure 1

Individuals with WAC mutations. (a) Frontal and lateral photographs of individuals with de novo mutations in WAC. All individuals shared overlapping facial dysmorphisms including a square-shaped face, long palpebral fissures, broad mouth and broad chin. Additional features included deep set eyes, epicanthal folds and short philtrum in Individual 1 (photograph at the age of 19 years); low posterior hairline, broad forehead, simple ears, hypertelorism, deep set eyes, low-set full eyebrows, synophrys, deep nasal bridge, flat nose, bifid tongue and broad gums in Individual 2 (photographs at the age of 12 years and 23 years); brachycephaly, posterior ear creases, broad forehead, prominent antihelix, low-set full eyebrows, synophrys and prominent teeth in Individual 3 (photographs at the age of 4 years and 9 years); prominent antihelix, frontal bossing, dental crowding, broad teeth and high palate in Individual 6 (photographs at the age of 3 years and 20 years) and prominent antihelix and deep set eyes in Individual 9 (photographs at the age of 3 years). Photographs were published with consent. (b) The genomic region involved in the 10p12p11 contiguous gene deletion region with the previously published microdeletions, represented by gray horizontal bars.^{14, 15, 16} (c) Detailed view of the smallest region of overlap (SRO) and the deletion described in this study, represented by a red horizontal bar. In addition, de novo mutations in WAC (NM_016628.3) reported in this study are shown according to their relative position at protein level.