16th November 2018 :
RAI2 (Italian television), broadcast DettoFatto, report on Chiara’s face reconstruction surgery.
See the report on
https://www.facebook.com/DettoFattoRai2/videos/181625632784663/
Le Dauphiné Libéré 2018.02.07
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.
ATP6V1E1 or ATP6V1A, are the new mutations recently published by a team of researchers including, among others, les nouvelles mutations publiées par une équipe de chercheurs incluant, entre autres, Mmes Gardeitchik, Mohammed, De Paepe, Malfait and Morava as well as Messrs Kornak, Wevers and Callewaert, who are researchers we are in contact with.
Those mutations can be included in Autosomal Recessive Cutis Laxa type 2 (ARCL2). They lead to Glycosylation Abnormalities (CDGs).