Screening for Genes in Patients With Congenital Neutropenia

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

25 participants

Study Classification

OBSERVATIONAL

Study Start Date

2013-09-30

Brief Summary

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Syndromic congenital neutropenia (SCN) includes a heterogeneous group of diseases characterized by congenital neutropenia associated with the involvement of other organs. Most patients have syndromic congenital neutropenia, which does not correspond, either clinically or genetically, to any other previously described form. A large number of genes still have to be identified in these syndromic forms.

The aim of this study is to identify the molecular bases of congenital neutropenias that have not yet been classified, by taking advantage of high-throughput exome sequencing.

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Detailed Description

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Conditions

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Congenital Neutropenia

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

PROSPECTIVE

Study Groups

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patients with neutropenia

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

* Persons who have provided written consent
* Patients with congenital neutropenia and mental retardation and/or a development anomaly (malformation, facial dysmorphism)
* Patients who accept a clinical evaluation, and to give at least one blood sample
* Screening for chromosomal microrearrangements by normal array-CGH

Exclusion Criteria

* Persons without national health insurance cover
* Patients who do not meet the clinical and/or biological criteria
* Refusal to give written consent to take part in the study
* Refusal to give a blood sample
* Blood samples from parents not available

Eligible Sex

ALL

Accepts Healthy Volunteers

No