Methylome Study in Sporadic Limb Malformations (METHYLIMB)

University Hospital, Lille

Status: Not yet enrolling

Conditions: Femur Fibula Ulna Syndrome; Amelia

Treatments: Other: Methylome

Study type: Observational

Funder types: Other

Identifiers

NCT05555225

2022-A01441-42 (Other Identifier)

2021_0524

Details and patient eligibility

About

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.

Enrollment: 48 estimated patients

Sex: All

Volunteers: Accepts Healthy Volunteers

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

Trial design

48 participants in 3 patient groups

Patients with amelia

Description:

Patients with severe hypoplasia or agenesia of at least two limbs who gave their consent for the research and for whom a DNA sample is available in our laboratory

Treatment:

Other: Methylome

Patients with Femur-Fibula-Ulna Syndrome

Description:

Patients with anomaly of at least one femur, one fibula and with oligodactyly who gave their consent for the research and for whom a DNA sample is available in our laboratory.

Treatment:

Other: Methylome

Healthy subjects

Description:

Healthy subjects used as controls, who gave their consent for the research and for whom a DNA sample is available in our laboratory.

Treatment:

Other: Methylome