Screening for Genes in Patients With Congenital Neutropenia (neutropenias)

University Hospital Center (CHU) Dijon Bourgogne

Status: Completed

Conditions: Congenital Neutropenia

Treatments: Genetic: High-throughput exome sequencing

Study type: Observational

Funder types: Other

Identifiers

NCT02866162

Thauvin PARI 2013

Details and patient eligibility

About

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.

Enrollment: 25 patients

Sex: All

Volunteers: No Healthy Volunteers

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

Trial design

25 participants in 1 patient group

patients with neutropenia

Treatment:

Genetic: High-throughput exome sequencing