Congenital Neutropenia
Conditions
Brief summary
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.
Interventions
Sponsors
Centre Hospitalier Universitaire Dijon
Study design
Observational model
CASE_CONTROL
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Identification of a gene or genes responsible for congenital neutropenia syndromic | day 1 |
Countries
France
Outcome results
None listed