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Updated: Jun 18, 2026
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Isolation of Human Lymphatic Endothelial Cells by Multi-parameter Fluorescence-activated Cell Sorting
Published on: May 1, 2015
Primary Upper Extremity Lymphedema Caused by a CELSR1 Variant.
Christopher L Sudduth1, Patrick J Smits1, Yu Sheng Cheng1
1Department of Plastic and Oral Surgery, Lymphedema ProgramBoston Children's Hospital, Harvard Medical School, Boston, MA.
Journal of Vascular Anomalies
|June 17, 2026
Summary
A novel genetic variant in the CELSR1 gene has been identified as a cause of primary lymphedema affecting the arm. This discovery sheds light on the genetic underpinnings of this rare condition.
Area of Science:
- Genetics
- Medical Science
- Molecular Biology
Background:
- Primary lymphedema of the upper extremity is uncommon.
- It is frequently linked to syndromic or generalized forms of lymphedema.
Purpose of the Study:
- To discover new causes of primary lymphedema specifically affecting the arm.
- To investigate the genetic basis of non-syndromic upper extremity lymphedema.
Main Methods:
- Whole-exome sequencing was performed on a patient with upper extremity lymphedema.
- Genetic variants were identified and confirmed using Sanger sequencing.
- Lymphoscintigraphy was used to diagnose lymphedema.
Main Results:
- A novel frameshift deletion in the CELSR1 gene (hg19: chr22:46,835,160_46,835,166del) was found in a patient with upper extremity lymphedema.
- This variant was also present in the patient's mother, who had lower extremity lymphedema.
- The identified variant leads to a premature stop codon in the CELSR1 gene.
Conclusions:
- A newly identified variant in the CELSR1 gene is associated with non-syndromic primary lymphedema of the arm.
- This finding expands the known spectrum of CELSR1-related lymphedema, previously linked only to lower extremity disease.
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