Collaborator: Parkland Health and Hospital System

• An additional case of Hennekam Lymphagiectasia-Lymphedema Syndrome caused by loss-of-function mutation in ADAMTS3

  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…