Sex-limited penetrance of lymphedema to females with CELSR1 haploinsufficiency: A second family |
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| Authors: | Robert P. Erickson Li-Wen Lai Debbie J. Mustacich Michael J. Bernas Phillip H. Kuo Marlys H. Witte |
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| Affiliation: | 1. Department of Pediatrics, University of Arizona College of Medicine, Tucson, Arizona;2. Department of Pathology, University of Arizona College of Medicine, Tucson, Arizona;3. Department of Surgery, University of Arizona College of Medicine, Tucson, Arizona;4. Department of Medical Imaging (Nuclear Medicine), University of Arizona College of Medicine, Tucson, Arizona |
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| Abstract: | A second multigeneration family with hereditary lymphedema (LE) secondary to a variant in the planar polarity gene, CELSR1, is described. Dominant inheritance of the variant was discovered using whole-exome sequencing and confirmed by Sanger sequencing. In contrast to heterozygous males, all heterozygous females showed LE during physical examination albeit variable in severity and age of onset. Lymphscintigraphy in affected females showed previously undescribed lymphatic abnormalities consistent with lymphangiectasia, valve dysfunction, and thoracic duct reflux. |
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| Keywords: | CELSR1 hereditary lymphedema lymphangiectasia lymphscintigraphy whole-exome sequencing |
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