PMC10196350_01
Genealogy map of the patient's family (A). Sanger sequencing of SLC9A6 of the patient with Christianson syndrome and his family. The patient had a de novo splicing variant in intron 11 (c.1366 + 1G > C) of SLC9A6 that was not present in his parents and two brothers (arrows; B). Structure of SLC9A6 (searched on NCBI, https://www.ncbi.nlm.nih.gov/gene/). The locations of SLC9A6 variations are indicated in black (top and bottom); locations of SLC9A6 variations in the patient reported are in red. The gene has 17 exons (yellow, exons are numbered E1-E17 sequentially; C). SLC9A6: solute carrier family 9 member A6.
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PMC10196350_01_fneur-14-1152696-g003.jpg
fig3
A total of three fragment deletions of the X chromosome and 47 pathogenic mutations were identified, of which 13 were intron splice site variants; de novo chromosomes or mutations accounted for 44.00% (22/50; Figure 3C).