Sex-limited penetrance of lymphedema to females with CELSR1 haploinsufficiency: A second family

Robert P. Erickson, Li Wen Lai, Debbie J. Mustacich, Michael J. Bernas, Phillip H. Kuo, Marlys H. Witte

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)478-482
Number of pages5
JournalClinical Genetics
Volume96
Issue number5
DOIs
StatePublished - Nov 1 2019

Keywords

  • CELSR1
  • hereditary lymphedema
  • lymphangiectasia
  • lymphscintigraphy
  • whole-exome sequencing

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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