Figure 1
(A) Pedigree of the family. (B) Phenotypes of affected members showing whitish color of the nails of both hands and feet.
Figure 2
Sequence analysis of the PLCD1 gene showing homozygous unaffected members and heterozygous affected ones (A). The predicted structure of wild-type PLCD1 protein (B). Zoom-up view of interaction pattern of wild type (C) and mutant type protein (D).
Table 1
List of mutations in the PLCD1 gene reported so far.
| Mutation | cDNA | Protein | Effect | Mode Inheritance of | References |
|---|---|---|---|---|---|
| Nonsense | c. 1309C>T | p.Arg437* | PTC | AR | 4,5 |
| Missense | c.1792-10delTGTAGTGGCC | FS and PTC | AR | 4 | |
| Missense | c.1720C>T | p.Ala574Thr | amino acid substitution | AD | 4 |
| Missense | c.625T>C | p.Cys209Arg | amino acid substitution | AD | 4; this study |
| Duplication | c2220-2223dupAGAG | p. Ser740Argfs*19 | FS and PTC | AR | 5 |