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

Korawan E. Sirisomboonwong; Joanne Martindale; Martin Keefe; David Goudie; Gemma Poke

doi:10.1002/ajmg.a.40652

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

Population Health and Genomics

Research output: Contribution to journal › Article › peer-review

2 Citations (Scopus)

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 language	English
Pages (from-to)	2892-2895
Number of pages	4
Journal	American Journal of Medical Genetics Part A
Volume	176
Issue number	12
Early online date	4 Dec 2018
DOIs	https://doi.org/10.1002/ajmg.a.40652
Publication status	Published - Dec 2018

Keywords

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

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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

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.",

keywords = "Ferguson-Smith disease, Loeys-Dietz syndrome, TGFBR1, multiple self-healing squamous epithelioma",

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Features of multiple self-healing squamous epithelioma and Loeys-Dietz syndrome in a patient with a novel TGFBR1 variant. / Sirisomboonwong, Korawan E. (Lead / Corresponding author); Martindale, Joanne; Keefe, Martin et al.
In: American Journal of Medical Genetics Part A, Vol. 176, No. 12, 12.2018, p. 2892-2895.

Research output: Contribution to journal › Article › peer-review

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AU - Goudie, David

AU - Poke, Gemma

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

Abstract

Keywords

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