| Gene | Exon | Mutation | DNA Change | Protein Change | Controls | Patient | # Affected Relatives | Notes | Mutation details |
| JUP | 12 | G680fsX690 | c.2040_2041delGT | p.Trp680GlyfsX11 |
0/200
| TFC+; Naxos-disease: woolly hair and palmoplantar keratoderma | 25 | autosomal recessive; a total of 26 mutation homozygotes were found in 12 families. |
Mutation details
|
| PKP2 | 3 | G324fsX348 | c.971_980del10 | p.Ala324GlyfsX25 |
0/200
| TFC+ | 4 | |
Mutation details
|
| PKP2 | 13 | V837fsX930 | c.2509delA | p.Ser837ValfsX94 |
0/200
| TFC+ | 5 | |
Mutation details
|
| PKP2 | 13 | R857fsX858 | c.2569_3018del50 | p.Tyr857ArgfsX2 |
0/200
| TFC+ | 10 | |
Mutation details
|