Table I.
Synopsis of KRT17 mutations in SM pedigrees in Chinese non-Chinese populations from a review of previous studies.
Domain | Mutation | Phenotype | Heredity | Population | Reference |
---|---|---|---|---|---|
V1 | S24L 71C>T | SM | Familial | Chinese | (6) |
1A | N92H 274A>C | SM | Familial | (7) | |
1A | N92S 275A>G | SM | Familial | Chinese | (8) |
PC-2 | Familial | (2) | |||
Familial | (3) | ||||
Familial | (5) | ||||
Familial & sporadic | (7) | ||||
Familial | (9) | ||||
Familial | (10) | ||||
Familial | (11) | ||||
Familial | (12) | ||||
1A | R94H 281 | SM | Familial | (7) | |
G>A | SM | Familial | Chinese | (8) | |
PC-2 | Sporadic | (13) | |||
1A | R94C 280 | SM | Familial | Chinese | (14) |
C>T | SM | Familial | (15) | ||
PC-2 | Familial | (3) | |||
Familial | (12) | ||||
1A | R94G 280C>G | SM | Familial | Chinese | (16) |
2B | L371P 1112T>C | SM | Familial | (17) |
SM, steatocystoma multiplex; PC-2, pachyonychia congenital type 2.