Screening for Genes in Patients With Poikiloderma

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

39 participants

Study Classification

OBSERVATIONAL

Study Start Date

2013-05-31

Brief Summary

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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

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Detailed Description

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Conditions

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Poikiloderma

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

PROSPECTIVE

Study Groups

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patients with poikiloderma

High-throughput exome sequencing

Intervention Type GENETIC

Interventions

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High-throughput exome sequencing

Intervention Type GENETIC

Eligibility Criteria

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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.