Amelia, Femur Fibula Ulna Syndrome
Conditions
Keywords
Amelia, Femur-Fibula-Ulna Syndrome, Methylation, Limb development, Gene regulation
Brief summary
Some limb malformations are known to be sporadic (non hereditary). For these malformations, no molecular cause was identified, even after whole genome sequencing. Methylation of CpG islands is an epigenetic process which is usually not transmitted to the descents. We hypothesize that sporadic limb malformations may be due to a methylation anomaly. This study will include patients with Amelia or Femur Fibula Ulna Syndrome. With patients consent, we will study the methylome on DNA samples already available in our laboratory. Each patient sample will be paired to a control of same tissue, age and sex. By bioinformatics comparison, we will identify differentially methylated candidate regions.
Interventions
OTHERMethylome
Epigenetic study : analysis of DNA methylation
Sponsors
University Hospital, Lille
Groupement Interrégional de Recherche Clinique et d'Innovation
Study design
Observational model
CASE_CONTROL
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
Yes
Inclusion criteria
* Specific consent for this study * DNA available in the laboratory * For amelia : agenesia of 2 or 4 limbs * For Femur-Fibula-Ulna Syndrome : hypoplasia or agenesia of the femur uni or bilateral with hypoplasia or agenesia or bowing of the fibula and/or of the ulna
Exclusion criteria
* No consent * No available DNA or poor quality of the DNA sample * Patient under tutorship * Pregnancy or nursing mother * Patient non covered by the French social security
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Differentially Methylated Regions | through study completion an average of 3 years |
Countries
France
Contacts
PRINCIPAL_INVESTIGATORPerrine BRUNELLE, MD
University Hospital, Lille
Outcome results
None listed