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| Name | Class |
|---|---|
| GEHU - Duve Institute - Bruxelles | UNKNOWN |
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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
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.
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| Measure | Description | Time Frame |
|---|---|---|
| Presence of unilateral lymphedema of lower limbs | Describe the clinical examination of all CELSR1 mutation carriers: with ISL classification and perimeter measurement and Stemmer sign. | day 1 |
| type of the morphological and functional pattern with imaging exploration. | Describe the morphological and functional pattern of the CELSR1 mutation with the imaging exploration | day 1 |
| Measure | Description | Time Frame |
|---|---|---|
| determine if deactivator mutation of CELSR1 | determine if deactivator mutation of CELSR1 is associated with :
| day 1 |
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Inclusion criteria:
Exclusion criteria:
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Patients with primary lymphedema of lower limbs, which carriewho carry d the codon stop or the amino acids substitution CELSR1 mutation, followed up at Montpellier University Hospital regardless of the age.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| MESTRE GODIN Sandrine, MD, PhD | Contact | 467337028 | 33 | s-mestre@chu-montpellier.fr |
| Aurélie LAY, résident | Contact | 4 67 33 70 28 | 33 | a-lay@chu-montpellier.fr |
| Name | Affiliation | Role |
|---|---|---|
| MESTRE GODIN Sandrine | University Hospital, Montpellier | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Uhmontpellier | Recruiting | Montpellier | 34295 | France |
NC
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| ID | Term |
|---|---|
| D008209 | Lymphedema |
| ID | Term |
|---|---|
| D008206 | Lymphatic Diseases |
| D006425 | Hemic and Lymphatic Diseases |
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