Table 6 List of mutations detected in patients with X-linked ichthyosis
From: Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis
X-Linked Ichthyosis | |||
|---|---|---|---|
Target gene | Sample ID | Variation | Note |
STS | ID-47 | c.1075 G > A, p.G359R | Npd |
STS | ID-48 | c.1075 G > A, p.G359R | Npd |
STS | ID-49 | c.452 C > G, p.P151R | Npd |
STS | ID-50 | neg | |
STS | ID-51 | neg | |
STS | ID-52 | del | ~1,5 Mb (6.552.712–8.115.153) |
STS | ID-53 | del | ~1,6 Mb (6.489.877–8.131.810) |
STS | ID-54 | del | ~1,5 Mb (6.552.712–8.097.511) |
STS | ID-55 | del | ~1,6 Mb (6.489.877–8.131.810) |
STS | ID-56 | del | ~1,6 Mb (6.467.006–8.131.810) |
STS | ID-57 | del | ~1,5 Mb (6.552.712–8.078.155) |
STS | ID-58 | del | ~1,5 Mb (6.552.712–8.097.511) |
STS | ID-59 | del | ~1,5 Mb (6.552.712–8.097.511) |