Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population

Eur J Hum Genet. 2015 Mar;23(3):342-6. doi: 10.1038/ejhg.2014.107. Epub 2014 Jul 2.


Osteochondrodysplasias represent a large group of developmental structural disorders that can be caused by mutations in a variety of genes responsible for chondrocyte development, differentiation, mineralization and early ossification. The application of whole-exome sequencing to disorders apparently segregating as Mendelian traits has proven to be an effective approach to disease gene identification for conditions with unknown molecular etiology. We identified a homozygous missense variant p.(Gly697Arg) in COL27A1, in a family with Steel syndrome and no consanguinity. Interestingly, the identified variant seems to have arisen as a founder mutation in the Puerto Rican population.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Amino Acid Sequence
  • Child, Preschool
  • Comparative Genomic Hybridization
  • Exome
  • Female
  • Fibrillar Collagens / chemistry
  • Fibrillar Collagens / genetics*
  • Follow-Up Studies
  • Founder Effect*
  • Genotype
  • Hispanic or Latino
  • Humans
  • Infant
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Osteochondrodysplasias / diagnosis
  • Osteochondrodysplasias / genetics*
  • Pedigree
  • Polymorphism, Single Nucleotide
  • Prostaglandins F
  • Puerto Rico / epidemiology
  • Sequence Alignment


  • COL27A1 protein, human
  • Fibrillar Collagens
  • Prostaglandins F