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

Authors:
Angela E Scheuerle
Angela E Scheuerle
Baylor College of Medicine
United States
Nathan T Sweed
Nathan T Sweed
University of Texas Southwestern Medical Center
Charles F Timmons
Charles F Timmons
University of Texas Southwestern Medical Center
United States
Erica D Smith
Erica D Smith
University of Washington
Seattle | United States
Wendy A Alcaraz
Wendy A Alcaraz
Division of Clinical Genomics
Deepali N Shinde
Deepali N Shinde
Johannes Kepler University
Austria

Am J Med Genet A 2018 Dec 18;176(12):2858-2861. Epub 2018 Nov 18.

Ambry Genetics, Aliso Viejo, California, USA.

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.

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Source
http://doi.wiley.com/10.1002/ajmg.a.40633
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.40633DOI Listing
December 2018
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