Screening for Genes in Patients With Congenital Neutropenia

Centre Hospitalier Universitaire Dijon25 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Congenital Neutropenia

Interventions

High-throughput exome sequencingGENETIC

Eligibility

Sex: ALL

Medical Language ↔ Plain English

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

Locations (1)

CHU Dijon Bourgogne

Dijon, France

Outcomes

Primary Outcomes

Identification of a gene or genes responsible for congenital neutropenia syndromic

Time frame: day 1

Data from ClinicalTrials.gov

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