Coagulation Factor XIII-A Subunit Missense Mutation in the Pathobiology of Autosomal Dominant Multiple Dermatofibromas

Abstract

Akt acutely transforming retrovirus AKT8 in rodent T cell lymphoma CDM cell-derived matrix Col I collagen type I ERK extracellular signal-regulated kinase ExAC Exome Aggregation Consortium FBS fetal bovine serum FN fibronectin FXIII-A Factor XIII subunit A GAPDH glyceraldehyde-3-phosphate dehydrogenase

SnapshotDx Quiz: July 2020

“…a. Treatment of fibroblasts with WT FXIII-A protein led to high proliferation rates after both 24 and 48 hours post-incubation, whereas treatment with Lys679Met FXIII-A led to higher proliferation rates after 48 hours: This is false based on the data presented in the paper by Supsrisunjai et al (2020). According to the authors, treatment of fibroblasts with WT FXIII-A led to higher proliferation rates after 48 hours, whereas treatment with Lys679Met FXIII-A led to significantly higher proliferation rates at both 24 and 48 hours postincubation.…”

“…Rarely, multiple DFs may occur in patients and have been associated with HIV infection, medications, pregnancy, autoimmune diseases, cancer, chromosomal abnormalities, immunodeficiencies, and metabolic disturbances (Beatrous et al, 2017). More recently, rare families with autosomal dominantly inherited multiple DFs caused by a missense mutation in the FXIII-A subunit have been reported (Supsrisunjai et al, 2020). On histopathology, there is a dermal proliferation of fibroblast-like spindle cells, histiocytes, and vessels (Elder et al, 2015).…”

“…This statement is true according to the article by Supsrisunjai et al (2020). To analyze extracellular matrix deposition by fibroblasts when treated with FXIII-A, the authors grew fibroblasts for 14 days on coverslips to generate cell-derived matrix (CDM) in the presence of either Lys679Met FXIII-A or WT FXIII-A.…”

“…These answers are false based on the data presented in the paper by Supsrisunjai et al (2020). The authors assessed collagen I and fibronectin levels in whole cell lysates of fibroblasts treated with FXIII-A.…”

“…2. Which of the following is TRUE according to the article by Supsrisunjai et al (2020)? a. Treatment of fibroblasts with wild-type (WT) FXIII-A protein led to high proliferation rates after both 24 and 48 hours post-incubation, whereas treatment with Lys679Met FXIII-A led to higher proliferation rates after 48 hours.…”