Sex‐limited penetrance of lymphedema to females with CELSR1 haploinsufficiency: A second family. Issue 5 (23rd August 2019)

• Record Type: Journal Article
• Authors: Erickson, Robert P.; Lai, Li‐Wen; Mustacich, Debbie J.; Bernas, Michael J.; Kuo, Phillip H.; Witte, Marlys H.
• Is Part Of: Clinical genetics. Volume 96:Issue 5(2019)
• Page Start: 478
• Page End: 482
• Publication Date: 2019-08-23
• Subjects: CELSR1 -- hereditary lymphedema -- lymphangiectasia -- lymphscintigraphy -- whole‐exome sequencing; Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.13622
• Languages: English
• ISSNs: 0009-9163

Abstract

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. Abstract : Sex‐linked lymphedema in CELSR1 haploinsufficiency.