Table 8 List of sequence variations detected in patients with syndromic ichthyosis and literature references
From: Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis
Syndromic Ichthyosis | |||||
|---|---|---|---|---|---|
Target gene | Disease | Sample ID | Variation 1 | Variation 2 | Note and references |
ALDH3A2 | SLS | ID-32 | c.551 C > G, p.T184R | c.551 C > G, p.T184R | [22] |
ID-33 | c.680delG, p.R227fsX3 | c.1108_1110delCTC, p.L370del | npd - npd | ||
ID-34 | c.680delG, p.R227fsX3 | c.1108_1110delCTC, p.L370del | npd - npd | ||
MBTPS2 | IFAP | ID-35 | c.1286 G > A, p.R429H | // | [23] |
PHYH | Refsum syndrome | ID-36 | c.683_684insG, p.G228fsX2 | c.683_684insG, p.G228fsX2 | [24] |
SNAP29-AP1S1 | CEDNIK | ID-37 | neg | ||
SPINK5 | Netherton syndrome | ID-38 | c. 301 A > T, p.K101X | ? | Npd |
ID-39 | c.1732 C > T, p.R578X | c.1888–1 G > A | [25] | ||
ID-40 | c.1431–12 G > A | c.1607 + 2 T > C | [26] - npd | ||
ID-41 | neg | ||||
EBP | CDPX2 | ID-42 | neg | ||
ID-43 | neg | ||||
VPS33B | ARC | ID-44 | neg | ||
ABHD5 | Neutral lipid storage disease | ID-45 | c.550 C > T, p.R184X | c.550 C > T, p.R184X | [27] |
ID-46 | c.550 C > T, p.R184X | c.550 C > T, p.R184X | [27] | ||