Primary Lymphedema and Mutation CELSR1 (Cadherin EGF LAG Seven-pass G-type Receptor 1)
Study Details
Study Description
Brief Summary
The investigators will describe the expression of mutation CELSR1 with codon stop and amino acids substitution mechanism in primary lymphedema, in both clinical examination and imaging exploration
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Detailed Description
According to the literature, it seems that the mutation of the CELSR1 gene is associated with primary lymphedema.
Thus, the investigators have identified families with CELSR1 mutation with codon stop or animo acid substitution mechanisms among patients followed up in vascular medicine department, at Montpellier University hospital for primary lymphedema of lower limbs.
Among the mutation carriers, the investigators have collected the clinical examinations and imaging exploration results, realized systematically during the follow up of all the patient with primary lymphedema (venous Doppler, MRI of the lymphatic system, lymphoscintigraphy of the lower limbs, abdominal ultrasound), in order to search for a morphological and functional pattern associated with the mutation.
Study Design
Outcome Measures
Primary Outcome Measures
- Presence of unilateral lymphedema of lower limbs [day 1]
Describe the clinical examination of all CELSR1 mutation carriers: with ISL classification and perimeter measurement and Stemmer sign.
- type of the morphological and functional pattern with imaging exploration. [day 1]
Describe the morphological and functional pattern of the CELSR1 mutation with the imaging exploration
Secondary Outcome Measures
- determine if deactivator mutation of CELSR1 [day 1]
determine if deactivator mutation of CELSR1 is associated with : Great saphenous vein anatomical variation kidney's anomalies
Eligibility Criteria
Criteria
Inclusion criteria:
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Patient followed up in vascular medicine departement at Montpellier University Hospital for primary lymphedema of lower limbs, who carries the CELSR1 mutation with codon stop or amino acids substitution mechanism.
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Relatives to the index case who carry the mutation for the segregation study.
Exclusion criteria:
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Patients who carry another mutation than CELSR1 responsible for primary lymphedema
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Syndromic form of primary lymphedema
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Patient not followed up at Montpellier University Hospital.
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | Uhmontpellier | Montpellier | France | 34295 |
Sponsors and Collaborators
- University Hospital, Montpellier
- GEHU - Duve Institute - Bruxelles
Investigators
- Principal Investigator: MESTRE GODIN Sandrine, University Hospital, Montpellier
Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- RECHMPL21_0086