In March, the American Journal of Medecine Genetics published an article showing that a mutation on the gene PTDSS1 leads to a very rare type of Cutis Laxa : Lenz-Majewski Syndrome (LMS) . It includes Cutis Laxa with growth delay, dwarfism and intellectual delay. According to this study of 3 cases, this is a new type of Cutis Laxa that needs to be added to those already identified.
http://www.cutislaxa.org/wp-content/uploads/2017/07/gene-small.jpg 169 300 Marie-Claude http://www.cutislaxa.org/wp-content/uploads/2017/12/NEW-LOGO-CLI-4.png Marie-Claude2018-03-31 15:35:052018-09-18 15:37:37A New Type of Cutis Laxa
http://www.cutislaxa.org/wp-content/uploads/2017/07/gene.jpg 300 300 sonja http://www.cutislaxa.org/wp-content/uploads/2017/12/NEW-LOGO-CLI-4.png sonja2017-07-01 14:38:312018-04-06 11:55:4612 different mutations have been identified
As of today, 12 different mutations have been identified leading to Cutis Laxa. That is why Cutis Laxa classification will soon be reviewed.
- Elastine (ELN) (2 mutations) – ADCL
- Fibuline5 (FBLN5) – ARCL1A
- Fibuline4 (FBLN4) – ARCL1B
- LTBP4 – ARCL1C
- ATP6V0A2 – ARCL2A
- PYCR1 – ARCL2B
- ATP6V1E1 / ATP6V1A – ARCL2C
- ALDH18A1 – ARCL3 (De Barsy Syndrom)
- SCYL1BP1 (Géroderma Osteodysplastica)
- ATP7A (Occipital Horn Syndrom)
- RIN2 (MACS Syndrom)