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. Author manuscript; available in PMC: 2017 Oct 1.
Published in final edited form as: Nat Genet. 2017 Feb 13;49(4):537–549. doi: 10.1038/ng.3790

Figure 1. DONSON mutations cause severe microcephaly and short stature.

Figure 1

(a) DONSON mutations result in severe prenatal-onset microcephaly, often associated with short stature. Length at birth (Lgt), current height (Hgt) and head circumference (OFC) plotted as z-scores (SD from population mean for age and sex). Black horizontal bars indicate mean values. Dashed line at −2 SD indicates cut-off for normal population distribution. Patients from the three independently identified DONSON patient cohorts are denoted by black (P1–P12 and P20), orange (P13), and blue (P14–19 and P21) circles. (b) Photographs of affected individuals with DONSON mutations demonstrating facial similarities. Written consent to publish photographs was obtained from the affected families. P, patient. (c) Schematics of the DONSON gene and protein indicating position of the identified mutations. DONSON mutations comprised a range of mutation classes (nonsense, frameshift, essential splice site, missense and intronic). The genomic structure is based on the longest ORF containing ten coding exons (white rectangles) (NM_017613.3). The positions of identified mutations affecting splicing are shown on the gene structure (top) and missense and truncating variants on the encoded protein (bottom).