Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect

Nat Genet. 1993 Apr;3(4):323-6. doi: 10.1038/ng0493-323.


Kniest and Stickler dysplasia are two chondrodysplasias characterized by specific phenotypes. No basic defect has been found in patients with Kniest dysplasia, whereas Stickler dysplasia is one of four chondrodysplasias for which mutations of type II procollagen gene (COL2A1) have been identified. We studied a 2-year-old girl presenting with manifestations of Kniest dysplasia and her mother showing a Stickler phenotype. Analysing COL2A1 in both patients, we detected the same 28 basepair deletion spanning the 3'-exon/intron boundary of exon 12 in mother and daughter. We were able to prove a somatic mosaic status for this mutation in the mother which accounts for her milder Stickler-like phenotype.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Base Composition
  • Base Sequence
  • Child, Preschool
  • Collagen / biosynthesis
  • Collagen / genetics*
  • DNA / blood
  • DNA / isolation & purification
  • DNA Primers
  • Exons
  • Female
  • Fibroblasts / metabolism
  • Hair / metabolism
  • Humans
  • Introns
  • Male
  • Molecular Sequence Data
  • Mosaicism
  • Osteochondrodysplasias / classification
  • Osteochondrodysplasias / genetics*
  • Phenotype
  • Polymerase Chain Reaction
  • Procollagen / genetics*
  • Sequence Deletion*


  • DNA Primers
  • Procollagen
  • Collagen
  • DNA