Table 2 Whole exome sequencing (WES) analysis of 36 CI patients
From: Altered skin microbiome, inflammation, and JAK/STAT signaling in Southeast Asian ichthyosis patients
Patient ID | Age at diagnosis | Gene | Variants | Variant classification | Zygosity | Inheritance | Mutation Status |
|---|---|---|---|---|---|---|---|
HI1 | 0–5 years | ABCA12: NM_173076.3 | R1297X and K2057QfsTer8 | Truncating-protein and Truncating-protein | Compound heterozygous | Autosomal recessive | Reported mutation [65] and novel mutation |
HI2 | 0–5 years | ABCA12: NM_173076.3 | L2203X and c.6393 + 1G > T | Truncating-protein and splicing variant | Compound heterozygous | Autosomal recessive | Novel mutations |
HI3 | 0–5 years | ABCA12: NM_173076.3 | S459T and S839L | Splicing variant and missense | Compound heterozygous | Autosomal recessive | Reported mutation [66, 67] |
HI4 | 0–5 years | ABCA12: NM_173076.3 | I1174P and c.1180 + 56A > G | Missense and splicing variant | Compound heterozygous | Autosomal recessive | Novel mutation |
HI5 | 0–5 years | ABCA12: NM_173076.3 | D2421G and Y2263X | Missense and truncating- protein | Compound heterozygous | Autosomal recessive | Novel mutation |
HI6 | 0–5 years | ABCA12: NM_173076.3 | D2421G and Y2263X | Missense and truncating-protein | Compound heterozygous | Autosomal recessive | Novel mutation |
HI7 | 0–5 years | ABCA12: NM_173076.3 | S1805X and P2416L | Truncating-protein and missense | Compound heterozygous | Autosomal recessive | Novel mutation and reported mutation [68] |
HI8 | 0–5 years | ABCA12: NM_173076.3 | S839L and c.6962 + 1G > A | Missense and splicing variant | Compound heterozygous | Autosomal recessive | Novel mutation |
LI1 | 11–15 years | TGM1: NM_000359.3 | R127X and R323W | Truncating-protein and missense | Compound heterozygous | Autosomal recessive | Reported mutation [69] and reported mutation [70] |
LI2 | 0–5 years | TGM1: NM_000359.3 | R93Q and c.1402 + 1G > A | Missense and splicing variant | Compound heterozygous | Autosomal recessive | Reported mutation [71] and novel mutation |
LI3 | 0–5 years | TGM1: NM_000359.3 | c.1646-1G > A and Q662X | Splicing variant and truncating-protein | Compound heterozygous | Autosomal recessive | Novel mutation and reported mutation [72] |
IV1 | 0–5 years | FLG: NM_002016 | Q3286X | Truncating-protein | Heterozygous | Autosomal dominant | Novel mutation |
IV2 | 6–10 years | FLG: NM_002016 | H2864CfsTer5 | Truncating-protein | Heterozygous | Autosomal dominant | Reported mutation [73, 74] |
IV3 | 16–20 years | FLG: NM_002016 | S1906X | Truncating-protein | Heterozygous | Autosomal dominant | Reported mutation [75, 76] |
IV4 | 11–15 years | FLG: NM_002016 | S1906X | Truncating-protein | Heterozygous | Autosomal dominant | Reported mutation [75, 76] |
IV5 | 6–10 years | FLG: NM_002016 | H2864CfsTer5 | Truncating-protein | Heterozygous | Autosomal dominant | Reported mutation [73, 74] |
IV6 | 6–10 years | FLG: NM_002016 | A2865GfsTer28 | Truncating-protein | Heterozygous | Autosomal dominant | Reported mutation [73, 74] |
IV7 | 16–20 years | FLG: NM_002016 | E2844delinsDK | Truncating-protein | Heterozygous | Autosomal dominant | Novel mutation |
IV8 | 16–20 years | FLG: NM_002016 | S1302X | Truncating-protein | Heterozygous | Autosomal dominant | Novel mutation |
IV9 | 61–65 years | FLG: NM_002016 | S406X | Truncating-protein | Heterozygous | Autosomal dominant | Novel mutation |
IV10 | 16–20 years | FLG: NM_002016 | S406X | Truncating-protein | Heterozygous | Autosomal dominant | Novel mutation |
IV11 | 26–30 years | FLG: NM_002016 | S1515X | Truncating-protein | Heterozygous | Autosomal dominant | Reported mutation [77] |
IV12 | 0–5 years | FLG: NM_002016 | S1515X | Truncating-protein | Heterozygous | Autosomal dominant | Reported mutation [77] |
IV13 | 0–5 years | FLG: NM_002016 | Y1119X | Truncating-protein | Heterozygous | Autosomal dominant | Novel mutation |
IV14 | 41–45 years | FLG: NM_002016 | G1109EfsTer13 | Truncating-protein | Heterozygous | Autosomal dominant | Reported mutation [78] |
IV15 | 0–5 years | FLG: NM_002016 | Y1119X | Truncating-protein | Heterozygous | Autosomal dominant | Novel mutation |
EI1 | 0–5 years | KRT1: NM_006121.4 | G488V | Missense | Heterozygous | Autosomal dominant | Novel mutation |
EI2 | 16–20 years | KRT1: NM_006121.4 | Y465X | Truncating-protein | Heterozygous | Autosomal dominant | Novel mutation |
EI3 | 6–10 years | KRT1: NM_006121.4 | R432G | Missense | Heterozygous | Autosomal dominant | Novel mutation |
EI4 | 21–25 years | KRT1: NM_006121.4 | L187F | Missense | Heterozygous | Autosomal dominant | Reported mutation [79] |
TTD1 | 36–40 years | ERCC2: NM_000400 | Q452X and R683Q | Truncating-protein and missense | Compound heterozygous | Autosomal recessive | Reported mutation [56] |
TTD2 | 26–30 years | ERCC2: NM_000400 | Q452X and R683Q | Truncating-protein and missense | Compound heterozygous | Autosomal recessive | Reported mutation [56] |
TTD3 | 26–30 years | ERCC2: NM_000400 | Y197A | Missense | Homozygous | Autosomal recessive | Novel mutation |
ARC1 | 0–5 years | VPS33B: NM_001289148 | R496X | Truncating-protein | Homozygous | Autosomal recessive | Reported mutation [80] |
SLS1 | 6–10 years | ALDH3A2: NM_001031806.2 | P315S and L456T | Missense and missense | Compound heterozygous | Autosomal recessive | Reported mutation [81] and novel mutation |
SLS2 | 6–10 years | ALDH3A2: NM_001031806.2 | K431Q | Missense | Homozygous | Autosomal recessive | Novel mutation |