Table 1.
Summary of clinical and mutation details of all four affected individuals
| Patient | Country of Origin | Dermatologic Phenotype | Thrombocytopenia | Mutations in KDSR and Amino Acid Change | 1000 Genomes Project Frequency |
ExAC Frequency |
SIFT (Score) | PolyPhen-2 (Score) | Mutation Taster |
|---|---|---|---|---|---|---|---|---|---|
| 1 | Spain | Palmoplantar and perianal keratoderma | + | c.413T>G: p.Phe138Cys | 0 | 8.3 × 10–5 | Damaging | Probably damaging | Disease-causing |
| c.417+3A>C | 0 | 0 | N/A | N/A | Disease-causing | ||||
| 2 | Spain | Palmoplantar and perianal keratoderma | + | c.413T>G: p.Phe138Cys | 0 | 8.3 × 10–5 | Damaging | Probably damaging | Disease-causing |
| c.417+3A>C | 0 | 0 | N/A | N/A | Disease-causing | ||||
| 3 | United Kingdom | Harlequin ichthyosis | + | c.812G>A: p.Gly271Glu | 0 | 0 | Damaging | Probably damaging | Disease-causing |
| c.879G>A: p.Gln293Gln | 0 | 3.3 × 10–5 | N/A | N/A | Disease-causing | ||||
| 4 | Japan | Harlequin ichthyosis | + | c.223_224delGA: p.Glu75Asnfs*2 | 0 | 0 | N/A | N/A | Disease-causing |
| c.544G>A: p.Gly182Ser | 0 | 8.2 × 10–6 | Damaging | Probably damaging | Disease-causing |
Abbreviations: ExAC, Exome Aggregation Consortium; N/A, not applicable; PolyPhen-2, Polymorphism Phenotyping v2; SIFT, Sorting Tolerant From Intolerant.