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.
Claudia Gonzaga-Jauregui  1 ,  Candace N Gamble  2 ,  Bo Yuan  1 ,  Samantha Penney  1 ,  Shalini Jhangiani  3 ,  Donna M Muzny  3 ,  Richard A Gibbs  4 ,  James R Lupski  5 ,  Jacqueline T Hecht  2
Affiliations
  • 1. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • 2. Department of Pediatrics, UT Health Medical School, Houston, TX, USA.
  • 3. Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
  • 4. 1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA [2] Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
  • 5. 1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA [2] Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA [3] Texas Children's Hospital, Houston, TX, USA [4] Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
PMID: 24986830 DOI: 10.1038/ejhg.2014.107
Abstract

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.