Multiple Self-Healing Squamous Epithelioma (MSSE): A Digenic Trait Associated with Loss of Function Mutations in TGFBR1 and Variants at a Second Linked Locus on the Long Arm of Chromosome 9

David Goudie (Lead / Corresponding author)

Research output: Contribution to journalReview articlepeer-review

6 Downloads (Pure)

Abstract

MSSE (Ferguson-Smith disease) is a rare familial condition in which multiple skin tumors resembling squamous carcinomas invade locally and then regress spontaneously after several months, leaving disfiguring scars. We review evidence from haplotype studies in MSSE families with common ancestry that the condition is caused by loss of function mutations in TGFBR1 interacting with permissive variants at a second linked locus on the long arm of chromosome 9. The spectrum of TGFBR1 mutations in MSSE and the allelic disorder Loeys Dietz syndrome (characterized by developmental anomalies and thoracic aortic aneurysms) differ. Reports of patients with both MSSE and Loeys Dietz syndrome are consistent with variants at a second locus determining whether self-healing epitheliomas occur in patients with the loss of function mutations found in most MSSE patients or the missense mutations in the intracellular kinase domain of TGFBR1 that characterize Loeys Dietz syndrome.

Original languageEnglish
Article number1410
Number of pages12
JournalGenes
Volume11
Issue number12
DOIs
Publication statusPublished - 26 Nov 2020

Keywords

  • Loeys Dietz syndrome
  • MSSE
  • Multiple self-healing squamous epithelioma
  • TGFBR1

Fingerprint Dive into the research topics of 'Multiple Self-Healing Squamous Epithelioma (MSSE): A Digenic Trait Associated with Loss of Function Mutations in <i>TGFBR1</i> and Variants at a Second Linked Locus on the Long Arm of Chromosome 9'. Together they form a unique fingerprint.

Cite this