| Gene | Exon | Mutation | DNA Change | Protein Change | Controls | Patient | # Affected Relatives | Notes | Mutation details |
| DSP | 7 | R270X | c.808C>T | p.Arg270X |
0/0
| TFC+; wooly hair and mild palmoplantar keratoderma | 1 | Digenic: PKP2 R735Q |
Mutation details
|
| DSP | 23 | E1337del | c.4010_4012delAGG | p.Glu1337del |
0/0
| TFC+; woolly hair | | 10 siblings SD<35years, all had woolly hair |
Mutation details
|
| DSP | 23 | L1486X | c.4457T>A | p.Leu1486X |
0/0
| TFC+ | 1 | |
Mutation details
|