Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA)

Mol Genet Metab. Sep-Oct 2005;86(1-2):269-76. doi: 10.1016/j.ymgme.2005.04.014. Epub 2005 Jun 24.


The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA) is an inheritable connective tissue disorder characterized by a deficiency of lysyl hydroxylase due to mutations in PLOD1. We describe a mutation analysis strategy for the PLOD1 gene using either cDNA or gDNA or a combination thereof, which allows for reliable, time-effective and efficient mutation detection in patients with EDS VIA. We report the results obtained in 9 index patients from 12 unrelated families: three patients were homozygous for three novel mutations (p.Ile454IlefsX2, p.Ala667Thr, and p.His706Arg), four patients were homozygous for the common duplication of exons 10-16, one patient was compound heterozygous for the common duplication and p.Ile454IlefsX2, and one patient was homozygous for p.Arg319X.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Child
  • Child, Preschool
  • DNA Primers
  • DNA, Complementary
  • Ehlers-Danlos Syndrome / diagnosis*
  • Ehlers-Danlos Syndrome / genetics*
  • Exons
  • Female
  • Homozygote
  • Humans
  • Kyphosis / diagnosis*
  • Kyphosis / genetics*
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Polymerase Chain Reaction
  • Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase / chemistry
  • Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase / genetics*
  • Sequence Homology, Amino Acid


  • DNA Primers
  • DNA, Complementary
  • Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase