Type II autosomal recessive cutis laxa: report of another patient and molecular studies concerning three candidate genes

Am J Med Genet A. 2008 Nov 1;146A(21):2740-5. doi: 10.1002/ajmg.a.32345.

Abstract

Cutis laxa is a rare disorder of connective tissue in which the skin sags excessively, giving the individual an aged appearance. In the present study we analyzed three unrelated families with type II autosomal recessive cutis laxa for mutations in three genes implicated in other forms of cutis laxa; LOX, FBLN4, and FBLN5 genes. Two individuals have been previously reported, and the third case is described in detail. No causative mutations were identified.

Publication types

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

MeSH terms

  • Base Sequence
  • Child
  • Cutis Laxa / classification
  • Cutis Laxa / genetics*
  • Cutis Laxa / pathology
  • DNA Mutational Analysis
  • DNA Primers / genetics
  • Extracellular Matrix Proteins / genetics
  • Female
  • Genes, Recessive
  • Heterozygote
  • Homozygote
  • Humans
  • Infant, Newborn
  • Male
  • Mutation, Missense
  • Phenotype
  • Polymorphism, Single Nucleotide
  • Protein-Lysine 6-Oxidase / genetics

Substances

  • DNA Primers
  • EFEMP2 protein, human
  • Extracellular Matrix Proteins
  • FBLN5 protein, human
  • Protein-Lysine 6-Oxidase