Identification of a de novo mutation of the elastin gene by targeted exome sequencing in autosomal dominant cutis laxa

Clin Exp Dermatol. 2022 Oct;47(10):1895-1897. doi: 10.1111/ced.15303. Epub 2022 Aug 24.


Cutis laxa (CL) comprises a heterogeneous group of entities mainly classified as X-linked, autosomal dominant and recessive forms, which differ in severity. We encountered a CL baby with no familial history. We performed targeted exome sequencing, and detected a de novo heterozygous frameshift mutation in the elastin gene of the baby.

MeSH terms

  • Cutis Laxa* / genetics
  • Elastin / genetics
  • Exome / genetics
  • Frameshift Mutation
  • Humans
  • Infant
  • Mutation


  • Elastin

Supplementary concepts

  • Cutis Laxa, Autosomal Dominant