An additional case of Hennekam lymphangiectasia–lymphedema syndrome caused by loss-of-function mutation in ADAMTS3

Angela Scheuerle, Nathan T. Sweed, Charles F Timmons, Erica D. Smith, Wendy A. Alcaraz, Deepali N. Shinde

Research output: Contribution to journalArticlepeer-review

12 Scopus citations

Abstract

Hennekam lymphangiectasia–lymphedema syndrome (HKLLS) is a genetically heterogeneous lymphatic dysplasia with characteristic of facial dysmorphism, neurocognitive impairments, and abnormalities of the pericardium, intestinal tract, and extremities. It is an autosomal recessive condition caused by biallelic mutations in CCBE1 (collagen- and calcium-binding epidermal growth factor domain-containing protein 1) (HKLLS1; OMIM 235510) or FAT4 (HKLLS2; OMIM 616006). CCBE1 acts via ADAMTS3 (a disintegrin and metalloprotease with thrombospondin motifs-3 protease) to enhance vascular endothelial growth factor C signaling. There is report of one family supporting mutations in ADAMTS3 as causative for the phenotype labeled as HKLLS3. Here, we report an additional case of HKLLS that appears to be associated with homozygous nonsense mutation of ADAMTS3.

Original languageEnglish (US)
Pages (from-to)2858-2861
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume176
Issue number12
DOIs
StatePublished - Dec 2018

Keywords

  • ADAMTS3
  • HKLLS
  • Hennekam lymphangiectasia–lymphedema syndrome
  • VEGF

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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