Screening for Genes in Patients With Poikiloderma (poikiloderma)

University Hospital Center (CHU) Dijon Bourgogne

Status: Completed

Conditions: Poikiloderma

Treatments: Genetic: High-throughput exome sequencing

Study type: Observational

Funder types: Other

Identifiers

NCT02862834

Courcet AOI 2012

Details and patient eligibility

About

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

Enrollment: 39 patients

Sex: All

Volunteers: No Healthy Volunteers

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

Trial design

39 participants in 1 patient group

patients with poikiloderma

Treatment:

Genetic: High-throughput exome sequencing