Figure 1.

Clinical assessment of the child with biallelic mutations in the ASNS gene. A, the ensemble.org transcript ENST00000394308.8 ASNS-202 diagram for ASNS was adapted to show the exon location of both c.1118G>T and c.1556G>A mutations. B, head circumference up to age 6 years. Head circumference in centimeters is the y-axis on the left and the percentile is shown on the right. C, T2 weighted axial MRI scan demonstrating diffuse failure of development of cerebral white matter and microcephaly. D, serum amino acid analysis of the child at age 4. Amino acid levels that were higher than the reference range (μmol/L) are shown in blue, those that were below the range are in orange, and those that were within the range are in black. ASNS, asparagine synthetase.