University Hospital, Lille
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.
Amelia
Femur Fibula Ulna Syndrome
Methylome
Study Type : | Observational |
Estimated Enrollment : | 48 participants |
Official Title : | Methylome Study in Patients Affected With Sporadic Limb Malformations |
Actual Study Start Date : | July 2023 |
Estimated Primary Completion Date : | July 2026 |
Estimated Study Completion Date : | July 2026 |
Information not available for Arms and Intervention/treatment
Ages Eligible for Study: | |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | Accepts Healthy Volunteers |
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