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. 2023 Jul 11;10(9):1556–1568. doi: 10.1002/acn3.51845

Figure 1.

Figure 1

Segregation of identified mutations in the AARS2, ABCD1, CSF1R, and GALC genes. (A and B) Sequence chromatogram of the c.452T>C (p.M151T) and c.2146‐2A>G mutations in the AARS2 gene in family 1, respectively. (C) Sequence chromatogram of the c.1661G>A (p.R554H) missense mutation in the ABCD1 gene in family 3. (D) Sequence chromatogram of the c.445_449del (p.S149Hfs*44) frameshift mutation in the ABCD1 gene in family 2. (E) Sequence chromatogram of the c.2909_2910insATCA (p.F971Sfs*7) frameshift mutation in the CSF1R gene in family 4. (F) Sequence chromatogram of the c.2625G>A (p.M875I) missense mutation in the CSF1R gene in family 5. (G and H) Sequence chromatogram of the c.658C>T (p.R220*) and c.767G>C (p.G256A) mutations in the GALC gene in family 6, respectively.