Prevalence of Cutis Laxa

Orphanet has just issued the new figures of rare disorders prevalence (number of birth/ 100 000).

https://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf

Below are the figures for Cutis Laxa (PN* means at birth in Europe).

A New Type of Cutis Laxa

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.

New mutations (ATP6V1E1, ATP6V1A)

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).

CLI

Scientific Talks of the 5th days of Cutis Laxa – 2016

Read all the details of the most recent findings

The scientific talks (in French and/or in English):


Dr Pascal SOMMER has isolated a molecule

With regards to therapeutic avenues, Dr Pascal SOMMER has already isolated a molecule that seems to work. There is still much to do to get this confirmed, but what progress already in 11 years !!

Identifying a new mutation (ATP6V0A2)

The study in wich Dr Zsolt URBAN took part concerning autosomal Recessive Cutis Laxa type II associated with CDG syndrom resulted in identifying a new mutation. It is a mutation on gene ATP6V0A2, leading to a loss of function of the a2 subunit of the proton prump that has an important role for fibroblasts.

Study on the properties of dill and minoxidil – 2006

A comparative study on the properties of dill and minoxidil showed these two products have a beneficial effect on the lost of elasticty due to ageing of the cardiovascular system. The interesting results of this thesis (in French) might lead to a therapeutical track.

The School of DNA – 2004