What is the role of genetics in the pathogenesis of CREST syndrome?

Updated: Oct 05, 2020
  • Author: Jeanie C Yoon, MD; Chief Editor: Dirk M Elston, MD  more...
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Animal models of scleroderma may help identify abnormalities in human scleroderma. The tight skin mouse model of scleroderma (Tsk1) is characterized by increased collagen deposition in the skin and some internal organs, as well as antinuclear antibody (ANA) production. The defect is a heterozygous mutation in the fibrillin-1 gene. A 1996 haplotype analysis of Choctaw Native Americans (who have a 50-fold increase in the prevalence of scleroderma) has demonstrated linkage between the fibrillin gene locus and the scleroderma phenotype. How a defect in fibrillin, an extracellular matrix component, may be involved in the pathogenesis of scleroderma is unclear.

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