Frame shift mutations of the ZMPSTE24 gene in two siblings with restrictive dermopathy

Clin Dysmorphol. 2016 Jan;25(1):7-11. doi: 10.1097/MCD.0000000000000100.

Abstract

Restrictive dermopathy (RD) is a rare lethal autosomal recessive genodermatosis, characterized by abnormally rigid skin with prominent superficial vasculature, erosions and epidermal hyperkeratosis, dysplastic clavicles, joint contractures, mouth fixed in the 'O' position, small pinched nose, and neonatal death. Mutations of ZMPSTE24 and LMNA genes are reported as the causes of RD, with those of ZMPSTE24 being more prevalent. Here, we report on a familial c.50delA (p.Lys17Serfs*21) mutation of the ZMPSTE24 gene, causing RD in two siblings.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Contracture / congenital*
  • Contracture / genetics
  • Exons
  • Frameshift Mutation*
  • Humans
  • Infant, Newborn
  • Male
  • Membrane Proteins / genetics*
  • Metalloendopeptidases / genetics*
  • Siblings
  • Skin Abnormalities / genetics*

Substances

  • Membrane Proteins
  • Metalloendopeptidases
  • ZMPSTE24 protein, human

Supplementary concepts

  • Tight skin contracture syndrome, lethal