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.jpg169300Marie-Claudehttp://www.cutislaxa.org/wp-content/uploads/2017/12/NEW-LOGO-CLI-4.pngMarie-Claude2018-03-31 15:35:052018-09-18 15:37:37A New Type of Cutis Laxa
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)
http://www.cutislaxa.org/wp-content/uploads/2017/07/gene.jpg300300sonjahttp://www.cutislaxa.org/wp-content/uploads/2017/12/NEW-LOGO-CLI-4.pngsonja2017-07-01 14:38:312018-04-06 11:55:4612 different mutations have been identified