Poikiloderma
Conditions
Brief summary
In the context of this study, the investigators wish to take advantage of high-throughput genetic techniques (microarray and high-throughput exome sequencing) to identify new genes implicated in syndromic poikiloderma so as to improve the diagnostic decision tree in these syndromes, opportunities for genetic counselling for patients and their families and the follow-up of patients, notably with regard to the risk of tumours. This study will make it possible to identify new genes implicated in syndromic poikiloderma and improve the diagnostic strategy proposed to patients with these syndromes, and to propose to patients a confirmed diagnosis, appropriate follow-up, notably with regard to the risk of tumours, genetic counselling to families and eventually an antenatal diagnosis to couples who would like to have one for future pregnancies. The identification of new genetic causes of syndromic poikiloderma will also make it possible to complete the current classification of these syndromes
Interventions
Sponsors
Centre Hospitalier Universitaire Dijon
Study design
Observational model
CASE_ONLY
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
patients with syndromic poikiloderma, defined by the association of poikiloderma with other extradermatological clinical signs, * normal array-CGH, screening for chromosomal rearrangements, * absence of mutations in the genes RECQL4, KIND1 or C16orf57, * sporadic or familial involvement.
Exclusion criteria
* None
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Identification of novel genes involved in syndromic poikiloderma | day 1 |
Countries
France
Outcome results
None listed