Features of multiple self-healing squamous epithelioma and Loeys-Dietz syndrome in a patient with a novel TGFBR1 variant

Korawan E. Sirisomboonwong (Lead / Corresponding author), Joanne Martindale, Martin Keefe, David Goudie, Gemma Poke

Research output: Contribution to journalArticle

Abstract

Multiple self-healing squamous epithelioma (MSSE, Ferguson-Smith disease) and Loeys-Dietz syndrome (LDS) are allelic conditions associated with pathogenic variants in the transforming growth factor beta receptor 1 gene (TGFBR1). We describe a patient with a novel missense variant in this gene: c.664G > A, p.[Gly222Arg], who clinically presents with both syndromes. The patient also has a history of gastric antral vascular ectasia, which has not been reported previously in LDS.

Original languageEnglish
Pages (from-to)2892-2895
Number of pages4
JournalAmerican Journal of Medical Genetics Part A
Volume176
Issue number12
Early online date4 Dec 2018
DOIs
Publication statusPublished - Dec 2018

Keywords

  • Ferguson-Smith disease
  • Loeys-Dietz syndrome
  • TGFBR1
  • multiple self-healing squamous epithelioma

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