Features of multiple self‐healing squamous epithelioma and Loeys‐Dietz syndrome in a patient with a novel TGFBR1 variant. Issue 12 (4th December 2018)

• Record Type: Journal Article
• Authors: Sirisomboonwong, Korawan E.; Martindale, Joanne; Keefe, Martin; Goudie, David; Poke, Gemma
• Is Part Of: American journal of medical genetics. Volume 176:Issue 12(2018)
• Page Start: 2892
• Page End: 2895
• Publication Date: 2018-12-04
• Subjects: Ferguson‐Smith disease -- Loeys‐Dietz syndrome -- multiple self‐healing squamous epithelioma -- TGFBR1; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.40652
• Languages: English
• ISSNs: 1552-4825

Abstract

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.