| Gene | Exon | Mutation | DNA Change | Protein Change | Controls | Patient | # Affected Relatives | Notes | Mutation details |
| JUP | 2 | S39_K40insS | c.118_119insGCA | p.Ser39_Lys40insSer |
0/0
| | | A model using transfected HEK293 cells showed diminished cell stiffness without affecting cell-to-cell adhesion |
Mutation details
|
| JUP | 12 | G680fsX690 | c.2040_2041delGT | p.Trp680GlyfsX11 |
0/0
| | | A model using transfected HEK293 cells showed dramatically decreased cell-to-cell adhesion without affecting cell compliance |
Mutation details
|