Screening for Genes in Patients With Poikiloderma

Completed

• Conditions: Poikiloderma
• Interventions: Genetic: High-throughput exome sequencing

• Registration Number: NCT02862834
• Lead Sponsor: Centre Hospitalier Universitaire Dijon

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

Detailed Description

Not available

Study Timeline

• Study Start: 2013-05
• Primary Completion: 2015-09
• Status Verified: 2016-08
• Study First Submitted: 2016-08-05
• Study First Submitted QC: 2016-08-10
• Last Update Submitted: 2016-08-10
• Study First Posted: 2016-08-11
• Last Update Posted: 2016-08-11

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 39

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
patients with poikiloderma	High-throughput exome sequencing	-

Primary Outcome Measures

Name	Time	Method
Identification of novel genes involved in syndromic poikiloderma	day 1

Trial Locations

Locations (1)

CHU Dijon Bourgogne; 🇫🇷 Dijon, France