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Published January 1, 2019 | Version v1
Journal article Open

Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?

Creators

  • 1. Univ Utah, HHT Ctr, Dept Med, Div Cardiovasc Med, Salt Lake City, UT 84112 USA
  • 2. ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USA
  • 3. Stanford Univ, Dept Pediat, Div Med Genet, Stanford, CA 94305 USA
  • 4. Univ Utah, USTAR Ctr Genet Discovery, Salt Lake City, UT USA
  • 5. Childrens Hosp Philadelphia, Roberts Individualized Med Genet Ctr, Philadelphia, PA 19104 USA
  • 6. Childrens Hosp Philadelphia, Dept Pediat, Dematol Sect, Philadelphia, PA 19104 USA
  • 7. Univ Utah, Dept Pediat, Div Pediat Cardiol, Salt Lake City, UT USA
  • 8. Univ Michigan, Dept Pediat & Communicable Dis, Div Pediat Genet Metab & Genom Med, Ann Arbor, MI 48109 USA
  • 9. Advocate Childrens Hosp, Park Ridge, IL USA

Description

Purpose: EPHB4 variants were recently reported to cause capillary malformation-arteriovenous malformation 2 (CM-AVM2). CM-AVM2 mimics RASA 1-related CM-AVM1 and hereditary hemorrhagic telangiectasia (HHT), as clinical features include capillary malformations (CMs), telangiectasia, and arteriovenous malformations (AVMs). Epistaxis, another clinical feature that overlaps with HHT, was reported in several cases. Based on the clinical overlap of CM-AVM2 and HHT, we hypothesized that patients considered clinically suspicious for HHT with no variant detected in an HHT gene (ENG, ACVRL1, or SMAD4) may have an EPHB4 variant.

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