Table 2. Confirmed mutations in 16 patients with cutis laxa.
| Patient | Gene | cDNA | Consequence | Mutation previously reported in other patients |
|---|---|---|---|---|
| 1 | RIN2 | c.1731delC | p.Ile578Serfs*4 | Albrecht et al27; Basel-Vanagaite et al26 |
| c.1731delC | p.Ile578Serfs*4 | |||
| 2 | PYCR1 | c.540+1G>A | splicing | Reversade et al18; Yildirim et al20 |
| c.540+1G>A | ||||
| 3 | PYCR1 | c.355C>T | p.Arg119Cys | — |
| c.356G>A | p.Arg119His | Reversade et al18 | ||
| 4 | PYCR1 | c.355C>T | p.Arg119Cys | — |
| c.355C>T | p.Arg119Cys | — | ||
| 5 | ALDH18A1 | c.1273C>T | p.Arg425Cys | Zampatti et al38 |
| c.2225G>T | p.Ser742Ile | |||
| 6 | PYCR1 | c.772G>A | p.Val258Met | — |
| c.772G>A | p.Val258Met | — | ||
| 7 | PYCR1 | c.535G>A | p.Ala179Thr | Reversade et al18 |
| c.535G>A | p.Ala179Thr | |||
| 8 | ATP6V0A2 | c.754delT | p.Tyr252Ilefs*15 | — |
| c.754delT | p.Tyr252Ilefs*15 | |||
| 9a | ATP6V0A2 | c.600delC | p.Ile201Serfs*20 | Fischer et al44 |
| 110-kb deletion | p. deletion | |||
| 10 | ATP6V0A2 | c.1101delC | pThr368Leufs*43 | — |
| c.1562_1563delins9 | p.Ile521Metfs*16 | |||
| 11 | ATP6V0A2 | c.1326+1G>A; | splicing/ | — |
| c.2287C>T | p.His763Tyr | |||
| 12 | ATP6V0A2 | c.1605+1G>A | splicing | — |
| c.1605+1G>A | ||||
| 13a | ATP6V0A2 | c.600delC | p.Ile201Serfs*20 | — |
| 110-kb deletion | p. deletion | |||
| 14a | GORAB | c.524C>T | p.Ser175Phe | — |
| c.524C>T | p.Ser175Phe | |||
| 15a | GORAB | c.524C>T | p.Ser175Phe | — |
| c.524C>T | p.Ser175Phe | |||
| 16 | GORAB | c.3676G>T | p.Glu123* | — |
| c.3676G>T | p.Glu123* |
a
Patients 9 and 13 and patients 14 and 15 are siblings.