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. Author manuscript; available in PMC: 2018 Jul 1.
Published in final edited form as: Br J Dermatol. 2017 Jun 7;177(1):319–322. doi: 10.1111/bjd.15570

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;

1

excessive vernix;

2

ectropion did not present until late adulthood;

3

subject moved out of the country at age 6 weeks and was lost to follow-up;

4

subject is adopted.