Table 1.
Geographic origin and mutations of the Ecuadorian patients studied diagnosed with Lamellar Ichthyosis. Hom: homozygous.
| Families | Family ID | Sample ID | Mut 1 | Mut 2 | Protein 1 | Protein 2 | Location |
|---|---|---|---|---|---|---|---|
| Family 1 | 1 A | III:2 | c.1187G > A | c.2278 C > T | p.Arg396His | p.Arg760* | Jaramijó, Manabí |
| Family 2 | 5E | III:1 | c.1187G > A (hom) | — | p.Arg396His (hom) | — | Jipijapa, Manabí |
| Family 3 | 11E | IV:1 | c.1187G > A (hom) | — | p.Arg396His (hom) | — | Manta, Manabí |
| Family 4 | 24E | III:6 | c.1187G > A | c.1192 G > T | p.Arg396His | p.Val398Phe | San Mateo, Manabí |
| Family 5 | 25E | IV:1 | c.1187G > A (hom) | — | p.Arg396His (hom) | — | Manta, Manabí |
| Family 6 | 27E | III:3 | c.1187G > A (hom) | — | p.Arg396His (hom) | — | Puerto López, Manabí |
| Family 7 | 17E | IV:3 | c.1187G > A (hom) | — | p.Arg396His (hom) | — | San Lorenzo, Manabí |
| Family 7 | 17E | IV:5 | c.1187G > A (hom) | — | p.Arg396His (hom) | — | San Lorenzo, Manabí |
| Family 7 | 17E | V:1 | c.1187G > A (hom) | — | p.Arg396His (hom) | — | Manabí |
| Family 7 | 17E | IV:24 | c.1187G > A (hom) | — | p.Arg396His (hom) | — | Manabí |
| Family 7 | 17E | IV:29 | c.1187G > A (hom) | — | p.Arg396His (hom) | — | Manabí |