Table 1.
Characteristics of subjects with PNPLA1 mutations.
Subject | Mutation(s) | Neonatal Presentation | Scale | Erythema | Ectropion | PPK | Consanguinity |
---|---|---|---|---|---|---|---|
ICH136-1 | c.335C>A; p.S112Y c.464C>T; p.P155L |
collodion1 | fine white | mild | none | none | no |
ICH162-1 | c.92C>A; p.A31D c.464C>T; p.P155L |
collodion | plate-like | minimal | severe | mild | no |
ICH162-2 | c.92C>A; p.A31D c.464C>T; p.P155L |
Non-collodion, presented in infancy with scale and erythema | plate-like | minimal | mild2 | mild | no |
ICH201-1 | c.100G>A; p.A34T c.418T>C; p.S140P |
generalized scale & erythema | plate-like | moderate | mild | mild | no |
ICH201-3 | c.418T>C; p.S140P homozygous | generalized scale & erythema | fine white | moderate-severe | none | mild | no |
ICH201-4 | c.418T>C; p.S140P homozygous | generalized scale & erythema | fine white | moderate-severe | none | none | no |
ICH215-1 | c.514G>A; p.D172N homozygous | collodion | unknown3 | no | |||
ICH422-1 | c.418T>C; p.S140P c.448T>C; p.C150R |
collodion | fine white | mild | none | none | no |
ICH431-1 | c.1300del.G; p.A434fs homozygous | Non-collodion, presented at 1 month with scale and erythema | fine white | mild | none | none | no |
ICH454-1 | c.646T>C; p.C216R homozygous | generalized scale | plate-like | minimal | none | mild | yes |
ICH454-3 | c.646T>C; p.C216R homozygous | generalized scale | plate-like | minimal | none | mild | yes |
ICH454-4 | c.646T>C; p.C216R homozygous | generalized scale | plate-like | minimal | none | mild | yes |
ICH459-1 | c.362A>C; p.H121P c.438+2C>G |
collodion | fine white | minimal | none | none | no |
ICH561-1 | c.1300del.G; p.A434fs homozygous | unknown | extremities plate-like; trunk has fine white scale | minimal | none | mild | unknown4 |
ICH590-1 | c.939G>T, c.940-952del.TGGGTTCCCAAAG; p.E313Dfs homozygous | unknown | lower extremities plate-like; trunk fine white | mild-moderate | mild | none | yes |
ICH592-1 | c.704C>T; p.P235L homozygous | collodion | fine white | minimal | none | none | yes |
ICH600-1 | c.421A>G; p.K141E homozygous | generalized scale & erythema | Plate-like | minimal | none | mild | yes |
ICH650-1 | c.157T>C; p.S53P homozygous | generalized scale | plate-like | moderate | mild | mild | no |
ICH658-1 | c.158C>G; p.S53W homozygous | collodion | fine white on trunk; plate-like on lower extremities | mild-moderate | mild | none | yes |
PPK: palmoplantar keratoderma; hom.: homozygous;
excessive vernix;
ectropion did not present until late adulthood;
subject moved out of the country at age 6 weeks and was lost to follow-up;
subject is adopted.