A novel elastin gene mutation in a Vietnamese patient with cutis laxa

Pediatr Dermatol. 2014 May-Jun;31(3):347-9. doi: 10.1111/pde.12334.

Abstract

We report a 3-year-old girl from Vietnam with severe congenital cutis laxa; no cardiovascular, pulmonary, neurologic, or visceral involvement; and no family history of cutis laxa. Mutational analysis of the elastin gene identified heterozygosity for a previously unreported de novo c.2184delT mutation in exon 30 not present in either parent.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • Asian People / genetics*
  • Child, Preschool
  • Cutis Laxa / genetics*
  • Cutis Laxa / pathology*
  • Elastin / genetics*
  • Family Health
  • Female
  • Heterozygote
  • Humans
  • Parents
  • Point Mutation*
  • Vietnam

Substances

  • Elastin